ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.318C>T (p.Ala106=)

gnomAD frequency: 0.00010  dbSNP: rs774528021
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440393 SCV000514957 likely benign not specified 2016-02-11 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.
Invitae RCV000632696 SCV000753882 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323593 SCV002610685 likely benign Inborn genetic diseases 2020-01-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003959879 SCV004769134 likely benign TPP1-related condition 2019-07-11 criteria provided, single submitter 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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