ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp)

gnomAD frequency: 0.00010  dbSNP: rs150566697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807926 SCV002058213 likely pathogenic Spinocerebellar ataxia type 35 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with TGM6 related disorder (PMID:33160304). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID:33160304, PS3_S). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.821, PP3_P). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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