ClinVar Miner

Submissions for variant NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer)

dbSNP: rs1565570957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709216 SCV000838645 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000709216 SCV002642111 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-25 criteria provided, single submitter clinical testing The c.493_497delAGTTC variant, located in coding exon 4 of the RECQL gene, results from a deletion of 5 nucleotides at nucleotide positions 493 to 497, causing a translational frameshift with a predicted alternate stop codon (p.S165*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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