ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu)

gnomAD frequency: 0.00001  dbSNP: rs1346269253
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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 RCV001203760 SCV001374936 uncertain significance Schimke immuno-osseous dysplasia 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 79 of the SMARCAL1 protein (p.Ser79Leu). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001203760 SCV002076277 uncertain significance Schimke immuno-osseous dysplasia 2020-02-13 no assertion criteria provided clinical testing

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