ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.936G>C (p.Gln312His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002293968 SCV002587002 pathogenic Fabry disease 2022-09-22 criteria provided, single submitter clinical testing Different nucleotide change resulting in same amino acid change has been previously reported to be associated with GLA-related disorder (PMID: 16595074). A different missense change at the same codon (p.Gln312Arg) has been reported to be associated with GLA-related disorder (PMID: 18205205). Missense changes are a common disease-causing mechanism. The variant is not observed in the gnomAD v2.1.1 dataset. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 27657681). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.74; 3Cnet: 0.99). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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