ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)

gnomAD frequency: 0.00088  dbSNP: rs148064565
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766956 SCV000243389 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics Inc RCV000189741 SCV000615826 uncertain significance not specified 2017-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314770 SCV000849206 likely benign Inborn genetic diseases 2018-11-12 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.
Invitae RCV000766956 SCV001006629 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000766956 SCV003820950 uncertain significance not provided 2021-04-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274545 SCV001458796 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-04-14 no assertion criteria provided clinical testing

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