ClinVar Miner

Submissions for variant NM_000601.6(HGF):c.754G>C (p.Asp252His)

dbSNP: rs752123971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195382 SCV001365731 uncertain significance not specified 2019-07-09 criteria provided, single submitter clinical testing The p.Asp252His variant in HGF has not been previously reported in individuals with hearing loss but has been identified in 0.003% (3/113742) of European chromosomes by gnomAD, including 1 homozygous individual (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.
GeneDx RCV004813837 SCV005439471 uncertain significance not provided 2024-06-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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