ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3126_3127delinsGC (p.Asp1042Glu)

dbSNP: rs1827383516
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321072 SCV001511886 uncertain significance Baller-Gerold syndrome 2020-07-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 1042 of the RECQL4 protein (p.Asp1042Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RECQL4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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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