ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)

gnomAD frequency: 0.00004  dbSNP: rs771538008
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227479 SCV000288253 pathogenic Baller-Gerold syndrome 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1026Alafs*6) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). This variant is present in population databases (rs771538008, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Rothmund-Thomson syndrome (PMID: 18716613, 27247962). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 239754). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000599050 SCV000710065 pathogenic not provided 2022-07-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29625052, 31589614, 18716613, 12734318, 27247962)
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199106 SCV001370101 likely pathogenic Rapadilino syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP5,PP3,PM3.
Institute of Immunology and Genetics Kaiserslautern RCV004771469 SCV005382187 pathogenic Rothmund-Thomson syndrome type 2 2023-12-18 criteria provided, single submitter clinical testing ACMG Criteria: PM2, PVS1, PM3, PP5; Variant was found in a heterozygous state

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