ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.1762G>A (p.Ala588Thr) (rs769553029)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000332107 SCV000345398 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV000794187 SCV000933580 uncertain significance Schimke immunoosseous dysplasia 2018-10-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 588 of the SMARCAL1 protein (p.Ala588Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs769553029, ExAC 0.009%). This variant has not been reported in the literature in individuals with SMARCAL1-related disease. ClinVar contains an entry for this variant (Variation ID: 290769). 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.

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