ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.78T>C (p.Ala26=) (rs59139861)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041917 SCV000065613 benign not specified 2017-04-25 criteria provided, single submitter clinical testing Ala26Ala in exon 2 of USH2A: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located near a s plice junction and has been identified in 1.8% (443/24026) of African chromosome s chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org; dbSNP rs59139861).
Invitae RCV000888634 SCV001032281 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001101303 SCV001257904 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). 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 RCV001101304 SCV001257905 uncertain significance 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 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.

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