ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1511A>G (p.Asp504Gly)

gnomAD frequency: 0.00001  dbSNP: rs750220462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816012 SCV000956498 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 504 of the ITGA7 protein (p.Asp504Gly). This variant is present in population databases (rs750220462, gnomAD 0.002%). 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: 659071). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt 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.
Revvity Omics, Revvity RCV000816012 SCV003811409 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2019-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892746 SCV004711426 uncertain significance ITGA7-related disorder 2024-01-30 no assertion criteria provided clinical testing The ITGA7 c.1511A>G variant is predicted to result in the amino acid substitution p.Asp504Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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