Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484862 | SCV000572825 | likely pathogenic | not provided | 2017-01-23 | criteria provided, single submitter | clinical testing | The c.184delG variant in the ISPD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.184delG variant causes a frameshift starting with codon Valine 62, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Val62SerfsX29. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Sufficient sequencing read depth from control individuals in the NHLBI Exome Sequencing Project and Exome Aggregation Consortium data sets was not available to assess whether the c.184delG variant may be a common benign variant in the general population; however, this variant has not been detected at any significant frequency in the internal database at GeneDx. We interpret c.184delG as a likely pathogenic variant. |
Eurofins Ntd Llc |
RCV000484862 | SCV000704194 | pathogenic | not provided | 2016-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000484862 | SCV001155043 | likely pathogenic | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002525923 | SCV003519665 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U | 2023-03-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 423167). This premature translational stop signal has been observed in individual(s) with ISPD-related conditions (PMID: 30564623, 31395954). 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 sequence change creates a premature translational stop signal (p.Val62Serfs*29) in the ISPD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ISPD are known to be pathogenic (PMID: 23288328). |
Revvity Omics, |
RCV000484862 | SCV003830202 | likely pathogenic | not provided | 2022-12-16 | criteria provided, single submitter | clinical testing |