ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2618C>T (p.Pro873Leu)

gnomAD frequency: 0.00001  dbSNP: rs1158920004
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214441 SCV001386123 uncertain significance Baller-Gerold syndrome 2021-09-02 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 944111). 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 proline with leucine at codon 873 of the RECQL4 protein (p.Pro873Leu). The proline residue is moderate conserved and there is a moderately physicochemical difference between proline and leucine.

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