ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter)

gnomAD frequency: 0.00001  dbSNP: rs199476412
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV000024511 SCV002502540 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002288520 SCV002580862 pathogenic MYPN-related myopathy 2022-05-25 criteria provided, single submitter clinical testing
Invitae RCV003764634 SCV004611247 pathogenic Dilated cardiomyopathy 1KK 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg885*) in the MYPN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYPN are known to be pathogenic (PMID: 28017374). This variant is present in population databases (rs199476412, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with autosomal recessive congenital myopathy and autosomal dominant hypertrophic cardiomyopathy (PMID: 28220527). ClinVar contains an entry for this variant (Variation ID: 31818). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV004586025 SCV005038577 pathogenic Cap myopathy 2024-03-01 criteria provided, single submitter research PVS1+PS3+PM2+PP3+PP4+PP5
Ambry Genetics RCV004639122 SCV005146179 pathogenic Cardiovascular phenotype 2024-05-16 criteria provided, single submitter clinical testing The p.R885* pathogenic mutation (also known as c.2653C>T), located in coding exon 11 of the MYPN gene, results from a C to T substitution at nucleotide position 2653. This changes the amino acid from an arginine to a stop codon within coding exon 11. This variant has been identified in the homozygous state in two individual(s) from one family with features consistent with MYPN-related nemaline myopathy (Lornage X et al. Ann Neurol, 2017 Mar;81:467-473). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Leiden Muscular Dystrophy (MYPN) RCV000024511 SCV000045815 not provided not provided 2012-04-27 no assertion provided curation

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