ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.617G>A (p.Arg206His) (rs781998354)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825983 SCV000967471 uncertain significance not specified 2018-03-07 criteria provided, single submitter clinical testing The p.Arg206His variant in MYO7A has been reported in 4 Asian individuals with h earing loss. Three of them did not have another MYO7A variant reported, while th e fourth carried two additional MYO7A variants and the individual's mother with normal hearing also carried the p.Arg206His variant (Hu 2004, Su 2009, Nishio 20 17). This variant has been identified in 0.16% (31/18868) of East Asian chromoso mes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org ; dbSNP rs781998354). Although this variant has been seen in the general populat ion, its frequency is not high enough to rule out a pathogenic role. Computation al prediction tools and conservation analyses suggest that this variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of the p.Arg206His variant is uncertain. ACMG/AMP Criteria applied: PP3.
Illumina Clinical Services Laboratory,Illumina RCV001109567 SCV001266915 uncertain significance Deafness, autosomal recessive 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001113579 SCV001271363 uncertain significance Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001245266 SCV001418541 uncertain significance not provided 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 206 of the MYO7A protein (p.Arg206His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs781998354, ExAC 0.2%). This variant has been observed in individuals affected with non-syndromic hearing loss (PMID: 19299023). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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