ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.3309C>G (p.Asn1103Lys)

gnomAD frequency: 0.00003  dbSNP: rs768823556
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508689 SCV001715011 uncertain significance not provided 2019-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564257 SCV003508439 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1103 of the ITGA7 protein (p.Asn1103Lys). This variant is present in population databases (rs768823556, 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: 1163534). 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.
PreventionGenetics, part of Exact Sciences RCV003399265 SCV004105266 uncertain significance ITGA7-related disorder 2023-05-04 criteria provided, single submitter clinical testing The ITGA7 c.3309C>G variant is predicted to result in the amino acid substitution p.Asn1103Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.099% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-56078947-G-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Revvity Omics, Revvity RCV002564257 SCV004235813 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-07-25 criteria provided, single submitter clinical testing

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