ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5284C>G (p.Arg1762Gly)

dbSNP: rs746492572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517728 SCV000613972 uncertain significance not specified 2017-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000701102 SCV000829885 uncertain significance LAMA2-related muscular dystrophy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 1762 of the LAMA2 protein (p.Arg1762Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs746492572, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 447688). 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.
Ambry Genetics RCV004984936 SCV005607116 uncertain significance Inborn genetic diseases 2024-06-26 criteria provided, single submitter clinical testing The c.5284C>G (p.R1762G) alteration is located in exon 37 (coding exon 37) of the LAMA2 gene. This alteration results from a C to G substitution at nucleotide position 5284, causing the arginine (R) at amino acid position 1762 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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