ClinVar Miner

Submissions for variant NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)

dbSNP: rs1014959895
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626798 SCV000747501 pathogenic Acanthosis nigricans; Obesity; Brachydactyly; Skeletal dysplasia; Insulin resistance; Short stature; Self-injurious behavior; Renal hypoplasia; Abnormal facial shape; Abnormality of the dentition; Hepatic steatosis; Lumbar hyperlordosis; Hyperlipidemia; Short metacarpal; Intellectual disability, severe 2017-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763383 SCV000894083 likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806107 SCV000946089 pathogenic not provided 2018-12-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PRMT7 are known to be pathogenic (PMID: 26437029, 27718516). This variant has been observed in an individual affected with SBIDDS syndrome (PMID: 28902392). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu108*) in the PRMT7 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV000806107 SCV001820963 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30006058, 30513135, 34244600, 36660030, 31623504, 28902392)
Ambry Genetics RCV002533154 SCV003688031 pathogenic Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.322G>T (p.E108*) alteration, located in exon 6 (coding exon 4) of the PRMT7 gene, consists of a G to T substitution at nucleotide position 322. This changes the amino acid from a glutamic acid (E) to a stop codon at amino acid position 108. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.002% (4/251442) total alleles studied. The highest observed frequency was 0.009% (3/34590) of Latino alleles. This alteration has been reported homozygous in a child with growth retardation, feeding difficulties, global developmental delay with severe intellectual disability, hypotonia, absence seizures, dysmorphic features, and other congenital anomalies (Agolini, 2017). Based on the available evidence, this alteration is classified as pathogenic.

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