ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) (rs139889944)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132572 SCV000172514 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036165 SCV000702938 likely benign not specified 2016-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000132572 SCV000976823 benign not provided 2018-03-14 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.
GeneReviews RCV000223626 SCV000268745 pathogenic Usher syndrome, type 1 2016-05-19 no assertion criteria provided literature only
Illumina Clinical Services Laboratory,Illumina RCV000297615 SCV000374398 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036165 SCV000059817 likely benign not specified 2012-12-07 criteria provided, single submitter clinical testing p.Arg1602Gln in exon 35 of MYO7A: This variant is not expect to have clinical si gnificance because it has been identified in 4.4% (377/8484) of East Asian chrom osomes including 7 homozygotes by the Exome Aggregation Consortium (ExAC, http:/ /; dbSNP rs139889944). This variant was reported in 2 ind ividuals with Usher syndrome (Liu 1998, Weston 1998). It was reported in trans with p.Leu651Pro in MYO7A of uncertain significance in two affected siblings (Li u 1998) and to be homozygous in another individual (Weston 1998), which is consi stent with its allele frequency in the general population and insufficient to su pport pathogenicity.

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