ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) (rs371401403)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171835 SCV000050861 uncertain significance Hypertrophic cardiomyopathy 2018-04-05 criteria provided, single submitter research
GeneDx RCV000158446 SCV000208381 uncertain significance not specified 2015-10-13 criteria provided, single submitter clinical testing This mutation is denoted p.Pro873Leu (aka P873L) at the protein level and c.2618 C>T at the cDNA level. The Pro873Leu mutation in the MYBPC3 gene has been published previously in association with cardiomyopathy (Probst, 2011). Pro873Leu was reported in a 37 year old male patient with decompensated congestive heart failure, and was not present in 360 control chromosomes (Probst, 2011). Another mutation affecting the same residue (Pro873His) has also been reported in association with HCM (Probst, 2011), further supporting the functional importance of this region of the protein.The variant is found in HCM panel(s).
Color RCV000777724 SCV000913670 uncertain significance Cardiomyopathy 2018-10-26 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the fibronectin type 3 domain C7 of the MYBPC3 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 27600940). This variant has also been identified in 12/175504 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
OMIM RCV000054802 SCV000083047 pathogenic Left ventricular noncompaction 10 2011-08-01 no assertion criteria provided literature only

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