ClinVar Miner

Submissions for variant NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile)

dbSNP: rs2137305371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246781 SCV002519886 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002246781 SCV003859459 uncertain significance not specified 2023-01-20 criteria provided, single submitter clinical testing The p.N619I variant (also known as c.1856A>T), located in coding exon 14 of the RECQL gene, results from an A to T substitution at nucleotide position 1856. The asparagine at codon 619 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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