ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002635249 SCV002963464 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 715 of the ITGA7 protein (p.Val715Ile). This variant is present in population databases (rs369291330, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. 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: "Possibly 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 RCV002635249 SCV003815717 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2019-10-14 criteria provided, single submitter clinical testing
GeneDx RCV003314741 SCV004014194 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004927834 SCV005599322 uncertain significance not specified 2024-09-26 criteria provided, single submitter clinical testing The c.2143G>A (p.V715I) alteration is located in exon 15 (coding exon 15) of the ITGA7 gene. This alteration results from a G to A substitution at nucleotide position 2143, causing the valine (V) at amino acid position 715 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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