ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)

dbSNP: rs1694331040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216644 SCV001388449 pathogenic Schimke immuno-osseous dysplasia 2021-09-14 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 579 of the SMARCAL1 protein (p.Ser579Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Schimke immuno-osseous dysplasia (PMID: 11799392, 17089404, 22998683). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 945899). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects SMARCAL1 function (PMID: 18805831, 26195148). For these reasons, this variant has been classified as Pathogenic.
Molecular Biology Laboratory, Fundació Puigvert RCV001216644 SCV001425266 likely pathogenic Schimke immuno-osseous dysplasia 2020-02-01 criteria provided, single submitter research

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