ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.-44C>T

gnomAD frequency: 0.00025  dbSNP: rs781906252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827826 SCV000969488 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000827826 SCV001472473 likely benign not provided 2020-05-14 criteria provided, single submitter clinical testing
Invitae RCV001828045 SCV003293199 uncertain significance Fabry disease 2022-11-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 222101). This variant has been observed in individual(s) with ischemic stroke and cerebral venous thrombosis (PMID: 20110537). This variant is present in population databases (rs781906252, gnomAD 0.02%). This variant occurs in a non-coding region of the GLA gene. It does not change the encoded amino acid sequence of the GLA protein. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GLA function (PMID: 25772321). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001828045 SCV002081355 likely benign Fabry disease 2020-02-12 no assertion criteria provided clinical testing

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