ClinVar Miner

Submissions for variant NM_002907.4(RECQL):c.1548dup (p.Asp517Ter)

dbSNP: rs1942965081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030654 SCV001193734 likely pathogenic Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Ambry Genetics RCV002400208 SCV002710121 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-17 criteria provided, single submitter clinical testing The c.1548dupT variant, located in coding exon 12 of the RECQL gene, results from a duplication of T at nucleotide position 1548, causing a translational frameshift with a predicted alternate stop codon (p.D517*).This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, the gene-disease association for RECQL is limited. In one study, this variant was detected in 0/568 HBOC patients and was identified in 1/3554 control individuals from a healthy Japanese population database (Kaneyasu T et al. NPJ Breast Cancer 2020 Jun;6:25). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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