ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) (rs111033214)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664470 SCV000788432 pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763278 SCV000893922 likely pathogenic Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000988609 SCV001138388 pathogenic Deafness, autosomal recessive 2 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075104 SCV001240715 pathogenic Retinal dystrophy 2018-08-02 criteria provided, single submitter clinical testing
Invitae RCV001385688 SCV001585637 pathogenic not provided 2020-09-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1170 of the MYO7A protein (p.Glu1170Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs111033214, ExAC 0.003%). This variant has been observed in individual(s) with Usher syndrome (PMID: 10425080, 15043528, 21436283). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 43208). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001385688 SCV001824526 pathogenic not provided 2021-03-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33576163, 31589614, 10425080, 30303587, 30081015, 26791358, 33671976, 10447383, 16652077, 31479088, 18181211, 21436283, 27460420, 21311020, 16679490, 12112664, 16470552, 23451239)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036112 SCV000059764 pathogenic Rare genetic deafness 2006-10-28 no assertion criteria provided clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001291476 SCV001479980 likely pathogenic Deafness, autosomal recessive no assertion criteria provided research

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