ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1610G>A (p.Arg537Gln)

gnomAD frequency: 0.00001  dbSNP: rs752569950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707051 SCV000836131 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 582868). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 537 of the ITGA7 protein (p.Arg537Gln). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Revvity Omics, Revvity RCV000707051 SCV003811408 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2019-09-25 criteria provided, single submitter clinical testing

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