ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.397C>A (p.His133Asn) (rs111033403)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151476 SCV000199541 uncertain significance not specified 2016-08-04 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Counsyl RCV000665283 SCV000789376 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV001054443 SCV001218757 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 133 of the MYO7A protein (p.His133Asn). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and asparagine. This variant is present in population databases (rs111033403, ExAC 0.009%). This variant has been observed in individual(s) with Usher syndrome (PMID: 26969326). ClinVar contains an entry for this variant (Variation ID: 164656). 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"). This variant disrupts the p.His133 amino acid residue in MYO7A. Other variant(s) that disrupt this residue have been observed in individuals with MYO7A-related conditions (PMID: 20052763, 16679490), which suggests that this may be a clinically significant amino acid residue. 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.
Illumina Clinical Services Laboratory,Illumina RCV001115094 SCV001273039 likely benign Usher syndrome type 1 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001115095 SCV001273040 uncertain significance Deafness, autosomal recessive 2 2017-04-28 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 RCV001115096 SCV001273041 uncertain significance Deafness, autosomal dominant 11 2017-04-28 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.

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