ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2512G>A (p.Glu838Lys)

dbSNP: rs397515969
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035498 SCV000059148 uncertain significance not specified 2012-11-20 criteria provided, single submitter clinical testing The Glu838Lys variant in MYBPC3 has not been reported in the literature nor prev iously identified by our laboratory. This variant has not been identified in lar ge and broad European American and African American populations by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/), though it remains pos sible that this variant is common in other populations. Computational analyses ( conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, additional information is needed to fully assess the cl inical significance of the Glu838Lys variant.

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