ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)

dbSNP: rs1288096114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057368 SCV001221855 uncertain significance Danon disease 2022-09-07 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 852704). This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 244 of the LAMP2 protein (p.Thr244Ser).
Institute of Human Genetics, University of Leipzig Medical Center RCV001057368 SCV001440530 uncertain significance Danon disease 2020-09-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001057368 SCV002786139 uncertain significance Danon disease 2021-10-06 criteria provided, single submitter clinical testing

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