ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2443C>T (p.His815Tyr) (rs1060501371)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466807 SCV000545950 uncertain significance Baller-Gerold syndrome 2017-06-26 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 815 of the RECQL4 protein (p.His815Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a RECQL4-related disease. ClinVar contains an entry for this variant (Variation ID: 406978). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on RECQL4 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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