ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3064A>G (p.Lys1022Glu)

dbSNP: rs1595081245
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000999572 SCV001156270 uncertain significance Hypertrophic cardiomyopathy 2018-10-12 criteria provided, single submitter research The MYH7 Lys1022Glu variant is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We have identified MYH7 Lys1022Glu in 1 HCM proband with a family history of disease however segregation was not possible (Ingles et al., 2017). Computational tools SIFT, MutationTaster, Polyphen-HCM and PolyPhen-2 predict the MYH7 Lys1022Glu variant to have a deleterious effect. In summary, based on rarity in general populations and our limited familial data, we classify MYH7 Lys1022Glu as a variant of "uncertain significance".

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