ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.747+5G>A (rs76735093)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182177 SCV000234480 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNQ1 gene. The c.1128+5 G>A variant has been reported in one individual referred for LQTS genetic testing (Kapplinger et al., 2009); however, additional clinical and segregation information were not provided. This variant is observed in 17/17242 (0.01%) alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016). While this substitution occurs at a nucleotide position that is not conserved across species, several splice prediction algorithms suggest that the c.1128+5 G>A variant may affect gene splicing. Nevertheless, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Fulgent Genetics,Fulgent Genetics RCV000764973 SCV000896150 uncertain significance Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000182177 SCV001004227 likely benign not provided 2018-09-03 criteria provided, single submitter clinical testing

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