Submissions for variant NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)

gnomAD frequency: 0.00622  dbSNP: rs112613526

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000974953	SCV001122826	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001987	SCV001159799	uncertain significance	not specified	2018-07-12	criteria provided, single submitter	clinical testing	The SAG c.1091C>T; p.Pro364Leu variant (rs112613526) is reported in the medical literature in an individual with autosomal recessive retinitis pigmentosa, but the variant was not described as causative and the authors question the contribution of SAG variants to retinitis pigmentosa or stationary night blindness (Sippel 1998). This variant is found in the African population with an overall allele frequency of 1.9% (460/23624 alleles, including 3 homozygotes) in the Genome Aggregation Database. The amino acid at this position is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Although there are indications that this variant may be benign, there is insufficient evidence to classify the variant with certainty. Therefore, considering available information, this variant is classified as uncertain. References: Sippel KC et al. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. Invest Ophthalmol Vis Sci. 1998 Mar;39(3):665-70.
Illumina Laboratory Services, Illumina	RCV001140416	SCV001300673	likely benign	Retinitis pigmentosa	2017-04-28	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001140417	SCV001300674	benign	Oguchi disease	2017-04-28	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Clinical Genetics, Academic Medical Center	RCV001001987	SCV001925961	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000974953	SCV001965091	likely benign	not provided		no assertion criteria provided	clinical testing