ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.1499_1500delinsTT (p.Trp500Phe) (rs1553526733)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599252 SCV000710458 likely pathogenic not provided 2018-01-19 criteria provided, single submitter clinical testing The c.1499_1500delGGinsTT variant in the SMARCAL1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1499_1500delGGinsTT variant is not observed in large population cohorts (Lek et al., 2016). This variant causes an in-frame deletion and insertion that results in the change of one amino acid, denoted p.Trp500Phe. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, the c.1499_1500delGGinsTT variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. We interpret c.1499_1500delGGinsTT as a likely pathogenic variant.

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