ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1393T>C (p.Leu465=)

gnomAD frequency: 0.00001  dbSNP: rs779653364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479695 SCV000569128 uncertain significance not provided 2016-11-14 criteria provided, single submitter clinical testing This variant is denoted BARD1 c.1393T>C at the DNA level. This variant is silent at the coding level, preserving a Leucine at codon 465; however, splicing models are uninformative for this variant. In the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. BARD1 c.1393T>C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The nucleotide which is altered, a thymine (T) at base 1393, is not conserved. Based on currently available information, it is unclear whether BARD1 c.1393T>C is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color Diagnostics, LLC DBA Color Health RCV000772625 SCV000905812 likely benign Hereditary cancer-predisposing syndrome 2015-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772625 SCV001171617 likely benign Hereditary cancer-predisposing syndrome 2015-11-08 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.
Invitae RCV001419932 SCV001622200 likely benign Familial cancer of breast 2023-08-17 criteria provided, single submitter clinical testing

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