Submissions for variant NM_005144.5(HR):c.3064A>G (p.Thr1022Ala)

gnomAD frequency: 0.08773  dbSNP: rs7014851

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000007755	SCV000472860	benign	Alopecia universalis congenita	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV001159828	SCV001321571	benign	Atrichia with papular lesions	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001723550	SCV001950608	benign	not provided	2018-07-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 9736769, 10594736, 20981092, 9445480, 27884173, 17609203)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001723550	SCV003335434	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001723550	SCV005266571	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000007755	SCV000027956	uncertain significance	Alopecia universalis congenita	1998-10-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004555531	SCV004796227	benign	HR-related disorder	2019-11-06	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).