ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) (rs193922378)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245194 SCV000319024 likely benign Cardiovascular phenotype 2016-09-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769322 SCV000900700 likely benign Cardiomyopathy 2015-12-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030281 SCV000052948 likely benign Primary familial hypertrophic cardiomyopathy 2015-10-02 no assertion criteria provided clinical testing The c.1863C>T (p.Phe621Phe) synonymous variant affects a non-conserved nucleotide. The Mutation Taster predicts a disease-causing outcome while 5/5 in silico programs (via Alamut) predict no significant effect on splicing. The variant was observed in the large, broad control population, ExAC with an allele frequency of 0.023% which does not exceed the maximal expected allele frequency of a disease causing MYBPC3 alleles. The variant has not been reported in CMYO patients and in vivo/vitro studies to describe the impact of the variant on splicing or mRNA levels have not been published at the time of scoring. Multiple reputable clinical laboratories classify the variant as “Likely Benign/Benign” without providing evidence. Considering all evidence, the variant of interest is classified as Possibly Normal Variant, until additional information becomes available.
Invitae RCV000227047 SCV000284217 benign Hypertrophic cardiomyopathy 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035445 SCV000059093 likely benign not specified 2017-03-03 criteria provided, single submitter clinical testing p.Phe621Phe in exon 19 of MYBPC3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (7/4616) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs193922378).

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