ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.146A>T (p.Asp49Val)

gnomAD frequency: 0.00238  dbSNP: rs12106280
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962784 SCV001109885 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289322 SCV001477056 benign not specified 2020-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548285 SCV003615118 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.146A>T (p.D49V) alteration is located in exon 2 (coding exon 2) of the TGM6 gene. This alteration results from a A to T substitution at nucleotide position 146, causing the aspartic acid (D) at amino acid position 49 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000962784 SCV005207227 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004754651 SCV005341959 benign TGM6-related disorder 2024-05-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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