ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.836T>C (p.Phe279Ser) (rs775057827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820460 SCV000961174 uncertain significance Schimke immunoosseous dysplasia 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 279 of the SMARCAL1 protein (p.Phe279Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs775057827, ExAC 0.02%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in two siblings with features of Schimke-immuno-osseous dysplasia (SIOD) (PMID: 15880370). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. In addition, this variant has been observed in several unrelated individuals affected with clinical features of SIOD (PMID: 21914180, 17089404, 22998683, 26499378, 15884045). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Gharavi Laboratory,Columbia University RCV000681816 SCV000809288 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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