ClinVar Miner

Submissions for variant NM_145199.3(LIPT1):c.565T>C (p.Leu189=)

gnomAD frequency: 0.56954  dbSNP: rs2632277
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419186 SCV000517608 benign not specified 2015-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521777 SCV001731179 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730678 SCV001981375 benign Lipoyl transferase 1 deficiency 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521777 SCV005246337 benign not provided criteria provided, single submitter not provided

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