ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.799A>G (p.Ile267Val)

gnomAD frequency: 0.00025  dbSNP: rs201469044
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647126 SCV000768913 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 267 of the ITGA7 protein (p.Ile267Val). This variant is present in population databases (rs201469044, gnomAD 0.09%). 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: 538001). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ITGA7 protein function with a negative predictive value of 80%. 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.
Baylor Genetics RCV000647126 SCV001520172 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001592803 SCV001825230 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000647126 SCV003811459 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-08-02 criteria provided, single submitter clinical testing

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