ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3G>T (p.Met1Ile)

dbSNP: rs1815451127
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216122 SCV001387899 uncertain significance Baller-Gerold syndrome 2019-08-01 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with RECQL4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change affects the initiator methionine of the RECQL4 mRNA. The next in-frame methionine is located at codon 358.

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