ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)

gnomAD frequency: 0.00001  dbSNP: rs782467999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443814 SCV000536042 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing The V1662M variant in the HCFC1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1662M variant was not observed with any significant frequency in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. The V1662M 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 is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1662M as a variant of uncertain significance.
Invitae RCV003522979 SCV004321316 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-06-25 criteria provided, single submitter clinical testing

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