ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg)

dbSNP: rs1569369217
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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 RCV000692414 SCV000820236 uncertain significance Danon disease 2018-06-12 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LAMP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 272 of the LAMP2 protein (p.Leu272Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine.
GenomeConnect, ClinGen RCV000692414 SCV002818368 not provided Danon disease no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 06-29-2018 by Lab or GTR ID 1238. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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