ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4865C>T (p.Ala1622Val)

gnomAD frequency: 0.00001  dbSNP: rs1275554425
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529106 SCV000648137 uncertain significance Rhabdoid tumor predisposition syndrome 2 2017-05-31 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on SMARCA4 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a SMARCA4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 1654 of the SMARCA4 protein (p.Ala1654Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.

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