ClinVar Miner

Submissions for variant NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser)

gnomAD frequency: 0.00002  dbSNP: rs768180196
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV000768570 SCV006077033 pathogenic Leukodystrophy, hypomyelinating, 18 2024-02-01 criteria provided, single submitter clinical testing The missense c.565A>G (p.Asn189Asp) variant in DEGS1 gene has been reported previously in individual(s) affected with DEGS1- related leukodystrophy (Pant et al., 2019). Additional functional studies will be required to prove the pathogenicity of this variant.
CeGaT Center for Human Genetics Tuebingen RCV002061034 SCV002496991 pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000768570 SCV001442997 pathogenic Leukodystrophy, hypomyelinating, 18 2020-06-01 criteria provided, single submitter clinical testing PS3, PM2, PM3, PP1_Moderate
SIB Swiss Institute of Bioinformatics RCV000768570 SCV001146814 pathogenic Leukodystrophy, hypomyelinating, 18 2019-09-25 criteria provided, single submitter curation This variant is interpreted as a Pathogenic for Leukodystrophy, hypomyelinating, 18, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM3, PS3, PP1-Moderate.
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev RCV000786045 SCV000897760 pathogenic Leukodystrophy 2019-04-10 criteria provided, single submitter clinical testing DEGS1 inactivating mutations were found to segregate with a form of leukodystrophy in a consanguineous family with 4 affected individuals. Pathogenicity was evaluated by several means.
OMIM RCV000768570 SCV000899274 pathogenic Leukodystrophy, hypomyelinating, 18 2020-04-02 no assertion criteria provided literature only

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