ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1611G>A (p.Ser537=)

gnomAD frequency: 0.00001  dbSNP: rs730881874
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703482 SCV000514024 likely benign not provided 2018-09-13 criteria provided, single submitter clinical testing
Invitae RCV000989569 SCV000633292 likely benign Familial cancer of breast 2024-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572139 SCV000664896 likely benign Hereditary cancer-predisposing syndrome 2016-07-08 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.
Color Diagnostics, LLC DBA Color Health RCV000572139 SCV000690793 likely benign Hereditary cancer-predisposing syndrome 2017-08-14 criteria provided, single submitter clinical testing
Mendelics RCV000989569 SCV001140030 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001121721 SCV001280367 uncertain significance Fanconi anemia complementation group N 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Sema4, Sema4 RCV000572139 SCV002530629 likely benign Hereditary cancer-predisposing syndrome 2021-11-29 criteria provided, single submitter curation

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