ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.322G>A (p.Gly108Ser)

gnomAD frequency: 0.00033  dbSNP: rs146022149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771524 SCV002002802 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001771524 SCV005731743 benign not provided 2024-07-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910997 SCV004721507 likely benign KRT5-related disorder 2024-07-25 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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