ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2843T>C (p.Leu948Pro)

gnomAD frequency: 0.00001  dbSNP: rs1207536526
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799911 SCV000939599 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-03-03 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 645761). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 948 of the ITGA7 protein (p.Leu948Pro). 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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