ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1404G>C (p.Glu468Asp)

dbSNP: rs371046973
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054683 SCV001219031 uncertain significance Baller-Gerold syndrome 2019-03-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 468 of the RECQL4 protein (p.Glu468Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: Not Available; Align-GVGD: "Class C35"). This variant has not been reported in the literature in individuals with RECQL4-related conditions.

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