ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.245TTG[1] (p.Val83del)

dbSNP: rs876660423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219514 SCV000277833 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-17 criteria provided, single submitter clinical testing The c.248_250delTTG variant (also known as p.V83del and 367del3) is located in coding exon 4 of the BRCA1 gene. This variant results from an in-frame deletion of 3 nucleotides at positions 248 to 250, causing the removal of a highly-conserved Valine residue at codon 83. Since supporting evidence is limited at this time, the clinical significance of c.248_250delTTG remains unclear.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496962 SCV000587042 uncertain significance not specified 2014-12-23 no assertion criteria provided research

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