Submissions for variant NM_012434.5(SLC17A5):c.409del (p.Met137fs)

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Total submissions: 7

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Natera, Inc.	RCV000185578	SCV007521496	likely pathogenic	Salla disease	2024-12-15	criteria provided, single submitter	clinical testing	The c.409delA variant in SLC17A5 is a frameshift variant predicted to shift the reading frame beginning at codon 137 and leads to a stop codon 3 codons downstream. This variant is expected to result in nonsense mediated decay, truncation, or a dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). Given the available evidence, this variant is classified as Likely Pathogenic.
Baylor Genetics	RCV000185578	SCV004201209	likely pathogenic	Salla disease	2023-10-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000185578	SCV002027579	likely pathogenic	Salla disease	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000185578	SCV001222701	pathogenic	Salla disease	2024-10-24	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Met137Cysfs*3) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 203395). For these reasons, this variant has been classified as Pathogenic.
Counsyl	RCV000185578	SCV000486112	likely pathogenic	Salla disease	2016-03-30	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
Division of Human Genetics, Children's Hospital of Philadelphia	RCV000185579	SCV000238479	likely pathogenic	Sialic acid storage disease, severe infantile type	2014-07-17	no assertion criteria provided	research	The SLC17A5 gene variant (c.409delA; p.Met137Cysfs*3) identified in this patient is a novel frameshift variant, which results in a truncated protein, considered a pathogenic variant .
Division of Human Genetics, Children's Hospital of Philadelphia	RCV000185578	SCV000238478	likely pathogenic	Salla disease	2014-07-17	no assertion criteria provided	research	The SLC17A5 gene variant (c.409delA; p.Met137Cysfs*3) identified in this patient is a novel frameshift variant, which results in a truncated protein, considered a pathogenic variant .

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