ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7609G>A (p.Val2537Met)

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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 RCV003065621 SCV003458773 uncertain significance LAMA2-related muscular dystrophy 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2537 of the LAMA2 protein (p.Val2537Met). This variant is present in population databases (rs540611163, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. 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. 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 RCV004985151 SCV005607137 uncertain significance Inborn genetic diseases 2024-11-14 criteria provided, single submitter clinical testing The c.7609G>A (p.V2537M) alteration is located in exon 55 (coding exon 55) of the LAMA2 gene. This alteration results from a G to A substitution at nucleotide position 7609, causing the valine (V) at amino acid position 2537 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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