ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1140G>A (p.Ala380=)

gnomAD frequency: 0.00001  dbSNP: rs1029569080
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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 RCV000546272 SCV000636861 likely benign Danon disease 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456099 SCV002612762 likely benign Cardiovascular phenotype 2022-10-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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