ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1191A>T (p.Pro397=)

gnomAD frequency: 0.00002  dbSNP: rs374034223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696524 SCV000825088 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-06 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 574562). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 397 of the ITGA7 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ITGA7 protein. It affects a nucleotide within the consensus splice site. 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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