ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter)

dbSNP: rs372328960
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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 RCV000647112 SCV000768899 pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency 2017-10-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs372328960, ExAC 0.01%). This variant has not been reported in the literature in individuals with ITGA7-related disease. Loss-of-function variants in ITGA7 are known to be pathogenic (PMID: 9590299). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg486*) in the ITGA7 gene. It is expected to result in an absent or disrupted protein product.

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