ClinVar Miner

Submissions for variant NM_005144.5(HR):c.1997_2000CCAG[1] (p.Ser667fs) (rs1477806230)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826143 SCV000967673 pathogenic Atrichia with papular lesions 2018-10-26 criteria provided, single submitter clinical testing The p.Ser667ArgfsX6 variant has been reported in 1 homozygous individual with at richia with papular lesions and segregated with disease in 4 affected family mem bers (Kruse 1999). It was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 667 and leads to a premature termination codon 6 amino aci ds downstream. This alteration is then predicted to lead to a truncated or absen t protein. Biallelic loss of function of the HR gene is an established disease m echanism in atrichia with papular lesions. In summary, this variant meets criter ia to be classified as pathogenic for atrichia with papular lesions in an autoso mal recessive manner. ACMG/AMP Criteria applied: PVS1, PM2, PP1_Moderate.

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