ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1570C>T (p.Pro524Ser) (rs374965803)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000335198 SCV000343154 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV000532337 SCV000631020 uncertain significance Baller-Gerold syndrome 2018-12-06 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 524 of the RECQL4 protein (p.Pro524Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs374965803, ExAC 0.007%). This variant has not been reported in the literature in individuals with a RECQL4-related disease. ClinVar contains an entry for this variant (Variation ID: 288908). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. 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.
Fulgent Genetics,Fulgent Genetics RCV000764761 SCV000895899 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing

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