ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3344G>T (p.Gly1115Val)

gnomAD frequency: 0.00001  dbSNP: rs370928756
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521058 SCV000621109 uncertain significance not provided 2017-10-11 criteria provided, single submitter clinical testing The G1115V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G1115V variant is observed in 3/78197 (0.004%) alleles from individuals of European background, including 2 unrelated hemizygous individuals in large population cohorts (Lek et al., 2016). The G1115V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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