ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.1235A>G (p.Gln412Arg)

dbSNP: rs776412628
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752171 SCV001988172 uncertain significance not provided 2019-09-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002032804 SCV002162481 uncertain significance LAMA2-related muscular dystrophy 2022-07-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 412 of the LAMA2 protein (p.Gln412Arg). 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. 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 LAMA2 protein function. ClinVar contains an entry for this variant (Variation ID: 1304404). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions.
Ambry Genetics RCV004040088 SCV004895567 uncertain significance Inborn genetic diseases 2023-12-31 criteria provided, single submitter clinical testing The c.1235A>G (p.Q412R) alteration is located in exon 9 (coding exon 9) of the LAMA2 gene. This alteration results from a A to G substitution at nucleotide position 1235, causing the glutamine (Q) at amino acid position 412 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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