ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)

gnomAD frequency: 0.00002  dbSNP: rs2058522449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001167551 SCV001330064 uncertain significance Danon disease 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001167551 SCV002188878 uncertain significance Danon disease 2024-12-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 387 of the LAMP2 protein (p.Gly387Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 913758). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LAMP2 protein function with a negative predictive value of 80%. 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 RCV004032898 SCV003641212 uncertain significance Cardiovascular phenotype 2022-08-17 criteria provided, single submitter clinical testing The c.1160G>C (p.G387A) alteration is located in exon 9 (coding exon 9) of the LAMP2 gene. This alteration results from a G to C substitution at nucleotide position 1160, causing the glycine (G) at amino acid position 387 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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