ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu)

gnomAD frequency: 0.00001  dbSNP: rs763739936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647114 SCV000768901 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 824 of the ITGA7 protein (p.Val824Leu). This variant is present in population databases (rs763739936, gnomAD 0.006%). 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: 537991). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV000647114 SCV003811434 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-05-27 criteria provided, single submitter clinical testing

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