ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1897+3G>A

gnomAD frequency: 0.00001  dbSNP: rs937023392
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554063 SCV000623539 uncertain significance Hypertrophic cardiomyopathy 2022-03-18 criteria provided, single submitter clinical testing This sequence change falls in intron 19 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 454306). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV001176061 SCV001339894 uncertain significance Cardiomyopathy 2023-04-21 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +3 position of intron 19 of the MYBPC3 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/214468 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002481744 SCV002791205 uncertain significance Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159714 SCV003911254 uncertain significance Cardiovascular phenotype 2023-03-18 criteria provided, single submitter clinical testing The c.1897+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 19 in the MYBPC3 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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