Submissions for variant NM_005144.5(HR):c.3470C>G (p.Pro1157Arg)

gnomAD frequency: 0.00014  dbSNP: rs201030061

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, 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 Laboratory Services, Illumina	RCV000275606	SCV000472844	likely benign	Atrichia with papular lesions	2016-06-14	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258244	SCV001435158	benign	Intellectual disability, autosomal dominant 14		criteria provided, single submitter	research	The homozygous p.Pro1157Arg variant in HR has been identified in at least 2 individuals with atrichia with papular lesions (PMID: 21919222), but has also been identified in >6% of South Asian chromosomes and 52 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for atrichia with papular lesions.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002523654	SCV003253965	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002523654	SCV005222803	likely benign	not provided		criteria provided, single submitter	not provided