ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2512G>A (p.Ala838Thr)

gnomAD frequency: 0.00004  dbSNP: rs369844668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338552 SCV001532232 uncertain significance Schimke immuno-osseous dysplasia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 838 of the SMARCAL1 protein (p.Ala838Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs369844668, ExAC 0.008%). 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 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.
Natera, Inc. RCV001338552 SCV002076332 uncertain significance Schimke immuno-osseous dysplasia 2020-08-20 no assertion criteria provided clinical testing

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