ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7793G>T (p.Gly2598Val)

dbSNP: rs879253971
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235681 SCV000293001 likely pathogenic not provided 2017-04-03 criteria provided, single submitter clinical testing The G2598V variant in the DYNC1H1 gene has not been published as a pathogenic, nor has it been reported as a benign polymorphism to our knowledge. The G2598V 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. 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. However, the G2598V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. The G2598V variant is a strong candidate for a disease-causing variant

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