ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1585_1587GTC[3] (p.Val530dup)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820120 SCV000960815 uncertain significance Baller-Gerold syndrome 2018-09-03 criteria provided, single submitter clinical testing This variant, c.1590_1591insGTC, results in the insertion of 1 amino acid to the RECQL4 protein (p.Val530dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs778439963, ExAC 0.002%). This variant has not been reported in the literature in individuals with RECQL4-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid 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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