ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.13C>T (p.Arg5Cys)

dbSNP: rs2147294900
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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 RCV001360992 SCV001556949 uncertain significance Danon disease 2020-01-16 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LAMP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 5 of the LAMP2 protein (p.Arg5Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine.
Revvity Omics, Revvity RCV001360992 SCV003816423 uncertain significance Danon disease 2022-03-21 criteria provided, single submitter clinical testing

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