Submissions for variant NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)

gnomAD frequency: 0.00985  dbSNP: rs77775126

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178267	SCV000230314	benign	not specified	2014-06-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000270795	SCV000474169	benign	Retinitis pigmentosa	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	RCV001426942	SCV000521099	benign	not provided	2019-11-13	criteria provided, single submitter	clinical testing	Reported in the heterozygous state in an individual with autosomal dominant retinitis pigmentosa (adRP); however, this variant failed to co-segregate with the disease in other affected family members. In addition, this variant was observed in 2/95 control individuals, leading the authors to suggest this is a benign variant (Berson et al., 2001); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15863674, 11527933, 21147909, 25097241, 11095597, 24705292, 24123366, 25333069, 27884173, 27535533)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000006334	SCV001157264	benign	Retinitis pigmentosa 1	2023-06-28	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000006334	SCV001435284	likely benign	Retinitis pigmentosa 1		criteria provided, single submitter	research	The homozygous p.Thr373Ile variant in RP1 has been identified in at least 2 individuals with autosomal recessive retinitis pigmentosa (PMID: 15863674), but has also been identified in >2% of South Asian chromosomes and 23 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive retinitis pigmentosa.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001426942	SCV001629608	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000006334	SCV002796281	likely benign	Retinitis pigmentosa 1	2022-02-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001426942	SCV004155809	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RP1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001426942	SCV005223582	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000006334	SCV000026516	pathogenic	Retinitis pigmentosa 1	2005-05-01	no assertion criteria provided	literature only