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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000962784 SCV001109885 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc 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.

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