ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.435A>G (p.Thr145=)

gnomAD frequency: 0.00001  dbSNP: rs752154343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044580 SCV001208385 uncertain significance Baller-Gerold syndrome 2023-10-27 criteria provided, single submitter clinical testing This sequence change affects codon 145 of the RECQL4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RECQL4 protein. This variant is present in population databases (rs752154343, gnomAD 0.02%). 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: 842201). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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