ClinVar Miner

Submissions for variant NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)

gnomAD frequency: 0.00001  dbSNP: rs57802288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000007239 SCV000267382 likely pathogenic Beaded hair 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV000056954 SCV003440537 likely pathogenic not provided 2024-04-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 407 of the KRT83 protein (p.Glu407Lys). This variant is present in population databases (rs57802288, gnomAD 0.003%). This missense change has been observed in individual(s) with monilethrix (PMID: 15744029, 25557232; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6837). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KRT83 protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000007239 SCV000027435 pathogenic Beaded hair 2005-03-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056954 SCV000088067 not provided not provided no assertion provided not provided

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