ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val)

dbSNP: rs587778654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002254680 SCV002526019 uncertain significance Rothmund-Thomson syndrome type 2 2022-03-24 criteria provided, single submitter clinical testing The RECQL4 c.1417C>G (p.Leu473Val) missense change is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). In silico tools predict a deleterious effect of this variant on protein function (PP3), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with RECQL4-associated disorders. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV002515892 SCV002953965 uncertain significance Baller-Gerold syndrome 2022-02-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 135172). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 473 of the RECQL4 protein (p.Leu473Val).
ITMI RCV000121973 SCV000086182 not provided not specified 2013-09-19 no assertion provided reference population

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