ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2016G>C (p.Arg672Ser)

dbSNP: rs1303862591
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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 RCV001898494 SCV002159698 uncertain significance Schimke immuno-osseous dysplasia 2021-12-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 672 of the SMARCAL1 protein (p.Arg672Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV001898494 SCV002788020 uncertain significance Schimke immuno-osseous dysplasia 2022-02-09 criteria provided, single submitter clinical testing

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