ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2418G>T (p.Pro806=)

dbSNP: rs577076372
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001030306 SCV000633349 likely benign Familial cancer of breast 2023-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000612786 SCV000719786 likely benign not specified 2017-05-24 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.
Color Diagnostics, LLC DBA Color Health RCV000774630 SCV000908470 likely benign Hereditary cancer-predisposing syndrome 2018-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774630 SCV001176319 likely benign Hereditary cancer-predisposing syndrome 2015-10-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800743 SCV002047243 likely benign not provided 2021-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537940 SCV004755585 likely benign PALB2-related disorder 2023-07-19 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).
Leiden Open Variation Database RCV001030306 SCV001193225 uncertain significance Familial cancer of breast 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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