ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.511C>T (p.Arg171Trp) (rs775651175)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474417 SCV000545994 uncertain significance Baller-Gerold syndrome 2018-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 171 of the RECQL4 protein (p.Arg171Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs775651175, ExAC 0.01%). This variant has been reported in an individual affected with breast cancer, and was also reported in this individual's unaffected family members (PMID: 28076423). ClinVar contains an entry for this variant (Variation ID: 407019). 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: "Probably Damaging"; Align-GVGD: "Class 0"). 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.

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