ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) (rs370945942)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252124 SCV000319077 likely benign Cardiovascular phenotype 2016-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000035417 SCV000170432 benign not specified 2012-04-25 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.
Integrated Genetics/Laboratory Corporation of America RCV000586805 SCV000696316 likely benign not provided 2017-06-22 criteria provided, single submitter clinical testing Variant summary: The MYBPC3 c.1602G>A (p.Ala534Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 21/107376 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.00143 (13/9094). This frequency is about 1.5 times the estimated maximal expected allele frequency of a pathogenic MYBPC3 variant (0.0010005), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035417 SCV000059065 likely benign not specified 2009-12-14 criteria provided, single submitter clinical testing

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