ClinVar Miner

Submissions for variant NM_000601.6(HGF):c.6G>T (p.Trp2Cys)

gnomAD frequency: 0.00001  dbSNP: rs745851853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752217 SCV001988235 uncertain significance not provided 2021-01-28 criteria provided, single submitter clinical testing Identified in an individual from a control group in a large screening study for keratoconus candidate genes (Lucas et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29924831)
Baylor Genetics RCV003147643 SCV003835057 uncertain significance Autosomal recessive nonsyndromic hearing loss 39 2021-05-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003976151 SCV004787614 likely benign HGF-related disorder 2023-04-11 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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