ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.236G>T (p.Gly79Val)

dbSNP: rs1173220801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231887 SCV001404423 uncertain significance Baller-Gerold syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 79 of the RECQL4 protein (p.Gly79Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (gnomAD no frequency). 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: 958678). 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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