ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) (rs200276882)

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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 RCV000041832 SCV000065528 likely benign not specified 2010-11-15 criteria provided, single submitter clinical testing Ile1234Val in exon 17 of USH2A: This variant is not expected to have clinical si gnificance because this residue is not highly conserved across species and compu tational analyses (PolyPhen, SIFT, AlignGVGD) do not suggest an impact to the pr otein. Of note, platypus, chicken and lizard also have a valine at this position .
Illumina Clinical Services Laboratory,Illumina RCV000291877 SCV000354123 uncertain significance Retinitis pigmentosa 2018-01-12 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 Clinical Services Laboratory,Illumina RCV000346771 SCV000354124 uncertain significance Usher syndrome, type 2A 2018-01-12 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.
Counsyl RCV000669144 SCV000793861 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-01 criteria provided, single submitter clinical testing

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