ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter)

gnomAD frequency: 0.00002  dbSNP: rs201217202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782311 SCV002016732 likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency 2020-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001782311 SCV002146753 pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency 2024-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg569*) 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 (rs201217202, gnomAD 0.005%). 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: 1324591). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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