ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3561C>G (p.Tyr1187Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center RCV003330298 SCV004037338 likely pathogenic Rapadilino syndrome 2019-10-16 criteria provided, single submitter clinical testing The maternally inherited c.3561C>G variant is a single base pair substitution at nucleotide c.3561 in the last exon (22/22) of the RECQL4 gene, resulting in a premature termination codon (PTC) at amino acid position 1187 (1209 in total). This variant is not predicted to undergo RNA nonsense-mediated decay (NMD). The variant has not been reported in the Genome Aggregation Database (gnomAD), indicating it is not a common benign variant in the populations represented in this database. To the best of our knowledge, this variant has not been reported in other unrelated patients in literature or ClinVar. However, one downstream frame shift variant has been reported in patient with RAPADILINO syndrome (PMID: 18716613). Based on above evidence, maternally inherited 3561C>G p.Tyr1187* variant is classified as Likely Pathogenic.

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