ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.825C>A (p.Val275=)

dbSNP: rs1814968623
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225220 SCV001397461 uncertain significance Baller-Gerold syndrome 2022-08-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 952989). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This sequence change affects codon 275 of the RECQL4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RECQL4 protein. 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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