ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2143G>A (p.Asp715Asn)

dbSNP: rs1131691371
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494207 SCV000581989 likely pathogenic not provided 2015-08-06 criteria provided, single submitter clinical testing The D715N variant in the SMARCA4 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The D715N variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D715N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. The D715N variant is a strong candidate for a disease-causing variant however, the possibility it may be a rare benign variant cannot be excluded.

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