ClinVar Miner

Submissions for variant NM_201631.4(TGM5):c.125C>A (p.Thr42Asn)

gnomAD frequency: 0.00206  dbSNP: rs148913728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000958689 SCV001105560 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115685 SCV001273682 uncertain significance Acral peeling skin syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences RCV003905789 SCV004720527 likely benign TGM5-related disorder 2023-03-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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