ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) (rs762836180)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000298880 SCV000374444 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353636 SCV000374445 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263554 SCV000374446 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000608053 SCV000713824 uncertain significance not specified 2018-01-18 criteria provided, single submitter clinical testing The p.Glu1794Lys variant in MYO7A has not been previously reported in in the lit erature, but has been reported in ClinVar (Variation ID 306194). It was also ide ntified in 22/113720 European chromosomes by the Genome Aggregation Database (gn omAD, http://gnomad.broadinstitute.org; dbSNP rs762836180). Although this varian t has been seen in the general population, its frequency is not high enough to r ule out a pathogenic role. Computational prediction tools and conservation analy sis do not provide strong support for or against an impact to the protein. In su mmary, the clinical significance of the p.Glu1794Lys variant is uncertain. ACMG/ AMP Criteria applied: none.

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