ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.116T>C (p.Val39Ala) (rs794729164)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183900 SCV000236383 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing p.Val39Ala (GTC>GCC): c.116 T>C in exon 3 of the SGCD gene (NM_000337.5). The Val39Ala variant in the SGCD gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Val39Ala was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Val39Ala results in a conservative amino acid substitution of one non-polar amino acid for another at a position that is class conserved across species. In silico analysis predicts Val39Ala is damaging to the protein structure/function. However, missense mutations in nearby residues have not been reported to date, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Val39Ala is a disease-causing mutation or a rare benign variant. The variant is found in DCM-CRDM panel(s).

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