ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.446G>A (p.Arg149Gln)

gnomAD frequency: 0.00001  dbSNP: rs758978382
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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 RCV001230015 SCV001402482 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-08-10 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 957098). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. This variant is present in population databases (rs758978382, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 149 of the ITGA7 protein (p.Arg149Gln).
Ambry Genetics RCV004032687 SCV003758636 uncertain significance not specified 2022-07-26 criteria provided, single submitter clinical testing The c.446G>A (p.R149Q) alteration is located in exon 4 (coding exon 4) of the ITGA7 gene. This alteration results from a G to A substitution at nucleotide position 446, causing the arginine (R) at amino acid position 149 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001230015 SCV003811444 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2019-11-14 criteria provided, single submitter clinical testing

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