ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)

gnomAD frequency: 0.00026  dbSNP: rs201613668
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189758 SCV000243406 uncertain significance not provided 2025-03-12 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in a patient with blindness in the literature, however additional clinical information was not provided and it is not known if this patient harbored a second TPP1 variant (PMID: 32483926); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32483926)
Labcorp Genetics (formerly Invitae), Labcorp RCV000189758 SCV000753902 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765000 SCV000896183 uncertain significance Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2021-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274542 SCV001458793 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-04-14 no assertion criteria provided clinical testing

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