ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3793+4A>G

gnomAD frequency: 0.00008  dbSNP: rs145946587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546683 SCV001766244 likely benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882619 SCV002167709 uncertain significance Dilated cardiomyopathy 1KK 2023-04-29 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1187289). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is present in population databases (rs145946587, gnomAD 0.02%). This sequence change falls in intron 19 of the MYPN gene. It does not directly change the encoded amino acid sequence of the MYPN protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV002359165 SCV002620111 uncertain significance Cardiovascular phenotype 2024-01-17 criteria provided, single submitter clinical testing The c.3793+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 18 in the MYPN gene. This nucleotide position is poorly 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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