ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.341T>C (p.Met114Thr)

gnomAD frequency: 0.00001  dbSNP: rs761095619
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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 RCV001044175 SCV001207956 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2019-02-18 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ITGA7-related conditions. This variant is present in population databases (rs761095619, ExAC 0.002%). This sequence change replaces methionine with threonine at codon 114 of the ITGA7 protein (p.Met114Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine.
Revvity Omics, Revvity RCV001044175 SCV004235815 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-05-16 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001044175 SCV001749820 not provided Congenital muscular dystrophy due to integrin alpha-7 deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-18-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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