ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.509-5T>C

gnomAD frequency: 0.00006  dbSNP: rs375548657
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000863964 SCV000514960 likely benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000863964 SCV001004700 likely benign not provided 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524808 SCV003742035 uncertain significance Inborn genetic diseases 2021-05-21 criteria provided, single submitter clinical testing The c.509-5T>C intronic alteration consists of a T to C substitution 5 nucleotides before coding exon 6 in the TPP1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004554769 SCV004771283 likely benign TPP1-related disorder 2022-11-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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