ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.639+6A>C (rs200096940)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000035306 SCV000728502 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035306 SCV000058954 uncertain significance not specified 2011-12-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 639+6A>C varian t (GLA) has not been previously reported but has been identified by our laborato ry in 1 individual with HCM who carried another possibly disease causing variant in the MYBPC3 gene. This variant occurs in the 5' splice site consensus sequenc e, but not in the invariant +1 or +2 positions. Computational tools do not predi ct an impact on splicing, though their accuracy is unknown. This variant is less likely disease causing but additional information is needed to confirm this.

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