ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.323C>T (p.Ala108Val)

gnomAD frequency: 0.00006  dbSNP: rs374132017
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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 RCV001068034 SCV001233122 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001068034 SCV001989344 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001836109 SCV002094876 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-10-23 no assertion criteria provided clinical testing

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