ClinVar Miner

Submissions for variant NM_017986.4(SLC52A1):c.635G>A (p.Arg212Gln)

gnomAD frequency: 0.00006  dbSNP: rs377338075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261561 SCV002541391 uncertain significance not provided 2021-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005095918 SCV003274179 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 212 of the SLC52A1 protein (p.Arg212Gln). This variant is present in population databases (rs377338075, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC52A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1693692). 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.
Ambry Genetics RCV004047407 SCV004952375 likely benign not specified 2023-12-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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