ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)

gnomAD frequency: 0.00001  dbSNP: rs756530648
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001860495 SCV002169143 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Human Genetics Section, Sidra Medicine RCV001829780 SCV004708149 likely pathogenic Neuronal ceroid lipofuscinosis 2 2024-02-28 criteria provided, single submitter research computational prediction tools unanimously support a deleterious effect on the gene. Extremely low frequency in GnomAD ( Total allele frequency in GnomAD 0.00001193). The variant is classified as likely pathogenic according to ACMG criteria.
Natera, Inc. RCV001829780 SCV002094805 uncertain significance Neuronal ceroid lipofuscinosis 2 2019-11-11 no assertion criteria provided clinical testing

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