ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) (rs200454015)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036091 SCV000059743 likely benign not specified 2012-02-09 criteria provided, single submitter clinical testing p.Arg873Trp in exon 22 of MYO7A: This variant has been reported in 4 individual s with sensorineural hearing loss or Usher syndrome; however, none of these indi viduals had a second MYO7A variant (Saihan 2011, Kothiyal 2010, Strike 2008). Th is variant has also been identified in 0.2% (141/62260) of European chromosomes including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs200454015). Based upon identification in 0.2% of contr ols and not identifying a second MYO7A variant in any affected individuals, this variant is likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724180 SCV000227878 uncertain significance not provided 2014-10-16 criteria provided, single submitter clinical testing
Mendelics RCV000988606 SCV001138385 benign Deafness, autosomal recessive 2 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000988606 SCV001267483 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 RCV001110090 SCV001267484 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.
Illumina Clinical Services Laboratory,Illumina RCV001114121 SCV001271960 uncertain significance Deafness, autosomal dominant 11 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197954 SCV001368739 uncertain significance Blurred vision; Macular hyperpigmentation 2018-12-20 criteria provided, single submitter clinical testing This variant was classified as: Benign. This variant was detected in homozygous state.
Invitae RCV000724180 SCV001421444 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 873 of the MYO7A protein (p.Arg873Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs200454015, ExAC 0.2%), including at least one homozygous and/or hemizygous individual. This variant has been observed in individuals affected with Usher syndrome (PMID: 22681893, 30245029). ClinVar contains an entry for this variant (Variation ID: 43187). 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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