ClinVar Miner

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

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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:/ /exac.broadinstitute.org; 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.
Illumina Clinical Services Laboratory,Illumina RCV000223626 SCV000374398 benign Usher syndrome type 1 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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.
Invitae RCV000132572 SCV001100241 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001109034 SCV001266339 likely benign Deafness, autosomal recessive 2 2018-03-06 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001111380 SCV001268931 benign Deafness, autosomal dominant 11 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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.
GeneReviews RCV000223626 SCV000268745 pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only

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