ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.966C>G (p.Asp322Glu)

dbSNP: rs398123226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078304 SCV000110144 pathogenic not provided 2013-03-14 criteria provided, single submitter clinical testing
3billion RCV002250557 SCV002521887 pathogenic Fabry disease 2022-05-22 criteria provided, single submitter clinical testing 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:28798024). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.77; 3Cnet: 0.98). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000092572). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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