ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.284C>T (p.Pro95Leu)

gnomAD frequency: 0.00044  dbSNP: rs143749139
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595509 SCV000705115 uncertain significance not provided 2018-04-30 criteria provided, single submitter clinical testing
Invitae RCV000795030 SCV000934468 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 95 of the ITGA7 protein (p.Pro95Leu). This variant is present in population databases (rs143749139, gnomAD 0.1%). 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: 499560). 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: "Deleterious"; 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.
GeneDx RCV000595509 SCV001763896 uncertain significance not provided 2023-03-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000795030 SCV003811400 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2020-09-10 criteria provided, single submitter clinical testing

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