ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.709G>A (p.Asp237Asn)

gnomAD frequency: 0.00001  dbSNP: rs754762899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647115 SCV000768902 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 237 of the ITGA7 protein (p.Asp237Asn). This variant is present in population databases (rs754762899, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. ClinVar contains an entry for this variant (Variation ID: 537992). 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: "Tolerated"; PolyPhen-2: "Possibly 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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