ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)

gnomAD frequency: 0.00010  dbSNP: rs727503735
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152627 SCV000201942 uncertain significance not specified 2013-07-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Leu1047Val vari ant in USH2A has been reported in 2 individuals with autosomal recessive retinit is pigmentosa, however it was not reported whether these individuals had a secon d variant in the USH2A gene (Jiad-Seyed-Ahmadi, 2003). This variant was not iden tified in large population. Computational analysis (biochemical amino acid prope rties, AlignGVGD, PolyPhen2, and SIFT) suggest the variant may not impact the pr otein, and the Leu1047 residue is not conserved across species with rock hyrax having a valine (Val) at that position. However, this data is not sufficient to rule out a pathogenic role. In summary, the clinical significance of this varian t cannot be determined; however based upon the lack of conservation and the comp utational data, we would lean toward a likely benign role.
Labcorp Genetics (formerly Invitae), Labcorp RCV000918519 SCV001063832 likely benign not provided 2024-12-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097182 SCV001253438 uncertain significance Usher syndrome type 2A 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001097183 SCV001253439 uncertain significance Retinitis pigmentosa 2017-09-15 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000918519 SCV001873053 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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