ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1483+27_1483+37del

dbSNP: rs1365691434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003130940 SCV003808083 uncertain significance Rothmund-Thomson syndrome type 2 2022-08-13 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated
GeneDx RCV004775348 SCV005383380 uncertain significance not provided 2024-02-12 criteria provided, single submitter clinical testing Identified with a second variant (phase unknown) in a patient with Rothmund-Thomson syndrome in published literature (PMID: 28486640); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 28486640)
Mendelics RCV003130940 SCV005419061 likely pathogenic Rothmund-Thomson syndrome type 2 2024-12-02 criteria provided, single submitter clinical testing The NM_004260.4(RECQL4):c.1483+27_1483+37del variant has a GnomAD 4.1.0 frequency of 0.000003161 (5 heterozygotes) with no homozygotes. This variant occurs close to the messenger RNA processing site (splicing donor site). It has been previously described on multiple occasions in the medical literature associated with the syndrome Rothmund-Thompson (https://pubmed.ncbi.nlm.nih.gov/34341987/). The combination of the molecular mechanism (which is possibly related to changes in mRNA processing), the characteristics of the region where it is found and the correlation of this gene with clinical symptoms indicate that this variant is likely pathogenic. It was found in homozygous state.

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