Submissions for variant NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)

dbSNP: rs1553781360

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000592804	SCV000701713	uncertain significance	not provided	2016-10-13	criteria provided, single submitter	clinical testing
Invitae	RCV000592804	SCV001222752	pathogenic	not provided	2022-08-15	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 497286). This variant has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 1985460, 20832389, 28076437). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.768_770del, results in the deletion of 1 amino acid(s) of the RHO protein (p.Ile256del), but otherwise preserves the integrity of the reading frame.
Blueprint Genetics	RCV001074532	SCV001240121	pathogenic	Retinal dystrophy	2018-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000592804	SCV001246340	pathogenic	not provided	2019-01-01	criteria provided, single submitter	clinical testing
OMIM	RCV001811090	SCV000034138	pathogenic	Retinitis pigmentosa 4	1992-03-01	no assertion criteria provided	literature only