ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) (rs41303257)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041836 SCV000065532 benign not specified 2010-10-06 criteria provided, single submitter clinical testing Asn1315Asn in exon 18 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and is found at an equal frequency in probands and controls (W eston 2000, Leroy 2001, Pennings 2004).
GeneDx RCV000041836 SCV000169738 benign not specified 2011-08-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000993542 SCV001146612 benign not provided 2019-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000041836 SCV001157167 benign not specified 2018-09-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001100533 SCV001257058 benign Retinitis pigmentosa 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001100534 SCV001257059 benign 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). 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.

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