ClinVar Miner

Submissions for variant NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) (rs112613526)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974953 SCV001122826 benign not provided 2020-11-17 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 Clinical Services Laboratory,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 Clinical Services Laboratory,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.

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