ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) (rs111033287)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036183 SCV000059835 benign not specified 2013-05-31 criteria provided, single submitter clinical testing Arg1743Trp in exon 38 of MYO7A: The Arg1743Trp variant has been reported indivi duals with Usher syndrome (Bharadwaj 2000, Pennings 2004, Cremers 2007, Jacobson 2008, Jacobson 2008). However, this variant is not expected to have clinical s ignificance because it has been identified in 0.38% (31/8068) of European Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/; rs111033287). Therefore, this variant meets our criteria to be classif ied as benign and the previous reports of this variant in clinical cohorts is mo st likely explained by incidental findings of this variant due to it's frequency in the general population rather than it's association with Usher syndrome.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723623 SCV000229889 uncertain significance not provided 2014-11-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286019 SCV000374435 likely benign Usher syndrome type 1 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000988615 SCV000374436 likely benign Deafness, autosomal recessive 2 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000391447 SCV000374437 likely benign Deafness, autosomal dominant 11 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000723623 SCV001028493 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000988615 SCV001138394 benign Deafness, autosomal recessive 2 2019-05-28 criteria provided, single submitter clinical testing

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