ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1072A>G (p.Met358Val) (rs371503929)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052055 SCV001216245 uncertain significance Baller-Gerold syndrome 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 358 of the RECQL4 protein (p.Met358Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs371503929, ExAC 0.01%). This variant has not been reported in the literature in individuals with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 135162). 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 C0"). 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.
ITMI RCV000121963 SCV000086170 not provided not specified 2013-09-19 no assertion provided reference population

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