ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) (rs41298747)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036159 SCV000059811 benign not specified 2010-09-03 criteria provided, single submitter clinical testing Thr1566Met in exon 35 of MYO7A: This variant has been reported in the literature (Cremers 2007, Najera 2002, Roux 2006) and in dbSNP (rs41298747). It is not exp ected to have clinical significance due to a common occurrence in controls and t he fact that the Met (methionine) variant at position 1566 is present in other m ammalian species including rat and mouse.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000036159 SCV000296901 benign not specified 2015-10-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289605 SCV000374389 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325844 SCV000374390 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384892 SCV000374391 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036159 SCV000513836 likely benign not specified 2017-08-30 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036159 SCV000700567 benign not specified 2017-01-31 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000677317 SCV000803492 benign Usher syndrome, type 1 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Usher syndrome 1B, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.

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