ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040438 SCV001204013 uncertain significance Schimke immuno-osseous dysplasia 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 256 of the SMARCAL1 protein (p.Ala256Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs751712707, ExAC 0.01%). This variant has not been reported in the literature in individuals with SMARCAL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. RCV001040438 SCV001457539 uncertain significance Schimke immuno-osseous dysplasia 2020-02-13 no assertion criteria provided clinical testing

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