ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.11G>T (p.Arg4Met)

dbSNP: rs1569306260
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000709852 SCV002125881 uncertain significance Fabry disease 2021-05-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GLA-related conditions. ClinVar contains an entry for this variant (Variation ID: 585079). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with methionine at codon 4 of the GLA protein (p.Arg4Met). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and methionine.
GenomeConnect, ClinGen RCV000709852 SCV000840184 not provided Fabry disease no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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