ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys)

dbSNP: rs1828015944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213789 SCV001385439 uncertain significance Baller-Gerold syndrome 2021-10-05 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 431 of the RECQL4 protein (p.Glu431Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.
Fulgent Genetics, Fulgent Genetics RCV002491657 SCV002800693 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 2021-09-09 criteria provided, single submitter clinical testing

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