ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1430T>A (p.Val477Asp)

gnomAD frequency: 0.00001  dbSNP: rs1275770988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705866 SCV000834883 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2018-03-12 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 477 of the ITGA7 protein (p.Val477Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ITGA7-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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