ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.891C>G (p.Asp297Glu) (rs34700133)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232852 SCV000288292 uncertain significance Baller-Gerold syndrome 2018-09-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 297 of the RECQL4 protein (p.Asp297Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency) and 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). However, the glutamic acid amino acid residue is found at this position 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 novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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