ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1559dup (p.Thr521fs)

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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 RCV005185697 SCV005822758 pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency 2024-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr521Tyrfs*29) in the ITGA7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGA7 are known to be pathogenic (PMID: 9590299). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. For these reasons, this variant has been classified as Pathogenic.

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