ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2070G>C (p.Met690Ile)

dbSNP: rs1872299582
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002026785 SCV002312309 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2021-06-30 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 690 of the ITGA7 protein (p.Met690Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine.

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