ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1315C>T (p.Pro439Ser) (rs776349086)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476798 SCV000545957 uncertain significance Baller-Gerold syndrome 2016-07-01 criteria provided, single submitter clinical testing This sequence change replaces Proline with Serine at codon 439 of the RECQL4 protein (p.Pro439Ser). TheProline residue is weakly conserved and there is a moderate physicochemical difference between Proline and Serine. This variant is present in population databases (rs776349086, ExAC <0.01%) but has not been reported in the literature in individuals with a RECQL4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Possibly damaging"; Align-GVGD: "Class 0"). The Serine amino acid residue is also 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, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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