ClinVar Miner

Submissions for variant NM_005144.4(HR):c.3470C>G (p.Pro1157Arg) (rs201030061)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000388519 SCV000472843 likely benign Alopecia universalis congenita 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000275606 SCV000472844 likely benign Atrichia with papular lesions 2016-06-14 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group,Broad Institute RCV000487434 SCV000574522 benign not specified 2016-11-20 criteria provided, single submitter reference population ACMG Criteria: BA1, BS2. Identified affected homozygotes in 2 consanguineous families from Pakistan/India with "hair loss soon after birth with the development of papular lesions of keratin-filled cysts" (PMID: 21919222). In ExAC, allele frequency >5% in South Asian ancestry individuals, including 52 homozygotes (1 in 150 South Asians are homozygous for this variant) for a gene associated with an autosomal recessive rare, moderate severity, pediatric-onset disorder.

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