ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.983G>C (p.Gly328Ala)

dbSNP: rs28935492
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723545 SCV000110147 pathogenic not provided 2012-08-15 criteria provided, single submitter clinical testing
Invitae RCV000011488 SCV002158551 pathogenic Fabry disease 2021-01-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly328 amino acid residue in GLA. Other variant(s) that disrupt this residue have been observed in individuals with GLA-related conditions (PMID: 16595074, 15712228, 1315715), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this variant affects GLA protein function (PMID: 21598360, 23935525). This variant has been observed in individual(s) with Fabry disease (PMID: 27834756, 16595074, 7504405). ClinVar contains an entry for this variant (Variation ID: 10740). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 328 of the GLA protein (p.Gly328Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.
OMIM RCV000011488 SCV000031720 pathogenic Fabry disease 1993-12-01 no assertion criteria provided literature only

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