ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu)

dbSNP: rs1693572522
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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 RCV001042702 SCV001206402 uncertain significance Schimke immuno-osseous dysplasia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 226 of the SMARCAL1 protein (p.Ser226Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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.
Natera, Inc. RCV001042702 SCV002076288 uncertain significance Schimke immuno-osseous dysplasia 2021-07-07 no assertion criteria provided clinical testing

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