ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.335T>A (p.Ile112Asn)

gnomAD frequency: 0.00002  dbSNP: rs752723849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000302323 SCV000452985 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001246839 SCV000452986 uncertain significance Myofibrillar myopathy 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000262153 SCV000452987 uncertain significance Limb-Girdle Muscular Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001246839 SCV001420226 uncertain significance Myofibrillar myopathy 3 2021-06-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MYOT-related conditions. ClinVar contains an entry for this variant (Variation ID: 351022). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs752723849, ExAC 0.003%). This sequence change replaces isoleucine with asparagine at codon 112 of the MYOT protein (p.Ile112Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine.

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