ClinVar Miner

Submissions for variant NM_138501.6(TECR):c.262G>T (p.Val88Leu)

gnomAD frequency: 0.00001  dbSNP: rs753690636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004022264 SCV003729258 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing The c.262G>T (p.V88L) alteration is located in exon 5 (coding exon 5) of the TECR gene. This alteration results from a G to T substitution at nucleotide position 262, causing the valine (V) at amino acid position 88 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001335398 SCV001528536 uncertain significance Intellectual disability, autosomal recessive 14 2018-12-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000437833 SCV000510880 uncertain significance not provided 2016-08-05 criteria provided, single submitter clinical testing Converted during submission from Uncertain Significance to Uncertain significance.

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