ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.717C>G (p.Thr239=)

gnomAD frequency: 0.00031  dbSNP: rs372516617
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502520 SCV000595108 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000502520 SCV000715512 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000974787 SCV001122652 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902776 SCV004723482 likely benign HCFC1-related disorder 2019-08-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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