ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.214G>A (p.Val72Met)

gnomAD frequency: 0.00001  dbSNP: rs778193991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608584 SCV000713211 uncertain significance not specified 2017-05-02 criteria provided, single submitter clinical testing The p.Val72Met variant in LAMP2 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/19131 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; d bSNP rs778193991). Computational prediction tools and conservation analysis do n ot provide strong support for or against an impact to the protein. In summary, t he clinical significance of the p.Val72Met variant is uncertain.
Genetics and Genomics Program, Sidra Medicine RCV001293166 SCV001434163 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003509578 SCV004301773 uncertain significance Danon disease 2022-12-15 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. 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 expected to disrupt LAMP2 protein function. ClinVar contains an entry for this variant (Variation ID: 505795). This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. This variant is present in population databases (rs778193991, gnomAD 0.005%), including at least one homozygous and/or hemizygous individual. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 72 of the LAMP2 protein (p.Val72Met).

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