ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)

gnomAD frequency: 0.00004  dbSNP: rs766038321
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001101106 SCV001257677 uncertain significance Retinitis pigmentosa 2018-03-23 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001101107 SCV001257678 uncertain significance Usher syndrome type 2A 2018-03-23 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV001101107 SCV001806186 uncertain significance Usher syndrome type 2A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578843 SCV001806187 uncertain significance Retinitis pigmentosa 39 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV002069695 SCV002399325 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing

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