ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2130G>A (p.Thr710=)

dbSNP: rs774049060
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163496 SCV000214054 likely benign Hereditary cancer-predisposing syndrome 2014-10-02 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.
GeneDx RCV000486987 SCV000566640 likely benign not provided 2020-08-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 28779002)
Labcorp Genetics (formerly Invitae), Labcorp RCV000635758 SCV000757180 likely benign Familial cancer of breast 2025-01-01 criteria provided, single submitter clinical testing
Counsyl RCV000635758 SCV000785974 likely benign Familial cancer of breast 2018-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163496 SCV000906473 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781696 SCV000919952 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000635758 SCV004019141 benign Familial cancer of breast 2023-03-30 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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