ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.671G>C (p.Gly224Ala)

gnomAD frequency: 0.00033  dbSNP: rs537950420
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647111 SCV000768898 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 224 of the ITGA7 protein (p.Gly224Ala). This variant is present in population databases (rs537950420, gnomAD 0.01%). 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: 537988). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV001592802 SCV001823135 uncertain significance not provided 2024-07-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000647111 SCV003811399 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-11-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001592802 SCV004226347 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing PP3
Ambry Genetics RCV004025723 SCV004888258 uncertain significance not specified 2024-01-12 criteria provided, single submitter clinical testing The c.671G>C (p.G224A) alteration is located in exon 5 (coding exon 5) of the ITGA7 gene. This alteration results from a G to C substitution at nucleotide position 671, causing the glycine (G) at amino acid position 224 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001592802 SCV005191845 uncertain significance not provided criteria provided, single submitter not provided

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