ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3352G>A (p.Gly1118Ser)

gnomAD frequency: 0.00001  dbSNP: rs773909942
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241360 SCV001414374 uncertain significance Baller-Gerold syndrome 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1118 of the RECQL4 protein (p.Gly1118Ser). This variant is present in population databases (rs773909942, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 966632). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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