ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3007G>A (p.Asp1003Asn)

dbSNP: rs564314108
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568678 SCV000672521 likely benign Hereditary cancer-predisposing syndrome 2023-05-23 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 RCV000568678 SCV000681571 likely benign Hereditary cancer-predisposing syndrome 2023-06-15 criteria provided, single submitter clinical testing
Invitae RCV003534351 SCV000827249 likely benign Familial adenomatous polyposis 1 2023-11-20 criteria provided, single submitter clinical testing
GeneDx RCV001775597 SCV002013922 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in healthy individuals undergoing whole genome sequencing, as well as individuals with a personal or family history of breast cancer (Bodian et al., 2014; McDonald et al., 2022); This variant is associated with the following publications: (PMID: 25545608, 36315513, 24728327)
Sema4, Sema4 RCV000568678 SCV002529436 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-15 criteria provided, single submitter curation
ITMI RCV000120035 SCV000084167 not provided not specified 2013-09-19 no assertion provided reference population

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