Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485780 | SCV000564593 | pathogenic | not provided | 2024-09-04 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation as the last 9 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 9863597, 34529350, 32860008, 19839041, 30084160, 12567415, 26526591) |
Centre for Mendelian Genomics, |
RCV001196991 | SCV001367626 | likely pathogenic | See cases | 2020-02-18 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. |
Centogene AG - |
RCV000012285 | SCV001426469 | pathogenic | X-linked chondrodysplasia punctata 1 | criteria provided, single submitter | clinical testing | ||
Revvity Omics, |
RCV000012285 | SCV002018874 | likely pathogenic | X-linked chondrodysplasia punctata 1 | 2023-05-30 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000012285 | SCV002587080 | likely pathogenic | X-linked chondrodysplasia punctata 1 | 2022-10-07 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1_MOD, PS4, PM2_SUP |
Labcorp Genetics |
RCV002512981 | SCV003516459 | pathogenic | Chondrodysplasia punctata, brachytelephalangic, autosomal | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp581*) in the ARSE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acid(s) of the ARSE protein. This variant is present in population databases (rs80338714, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with chondrodysplasia punctata (PMID: 9863597, 12567415). ClinVar contains an entry for this variant (Variation ID: 11529). For these reasons, this variant has been classified as Pathogenic. |
Institute of Medical Genetics and Applied Genomics, |
RCV000012285 | SCV004171252 | pathogenic | X-linked chondrodysplasia punctata 1 | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV000012285 | SCV005090977 | likely pathogenic | X-linked chondrodysplasia punctata 1 | 2024-05-23 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP5-The variant is expected to result in an absent or disrupted protein product. Low frequency in gnomAD population databases. It has been reported in ClinVar as Pathogenic by other laboratories (Variation ID: 11529). It has been previously reported as causative for chondrodysplasia punctata (PMID: 9863597, 12567415) |
Ambry Genetics | RCV004658960 | SCV005163663 | pathogenic | Inborn genetic diseases | 2024-04-30 | criteria provided, single submitter | clinical testing | The c.1743G>A (p.W581*) alteration, located in exon 11 (coding exon 10) of the ARSL gene, consists of a G to A substitution at nucleotide position 1743. This changes the amino acid from a tryptophan (W) to a stop codon at amino acid position 581. This alteration occurs at the 3' terminus of the ARSL gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 1.5% of the protein. The exact functional effect of this alteration is unknown. Based on data from gnomAD, the c.1743G>A allele has an overall frequency of 0.001% (2/197636) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.002% (2/89531) of European (non-Finnish) alleles. This variant was reported in multiple individuals with features consistent with ARSL-related chondrodysplasia punctata (Sheffield, 1998; Brunetti-Pierri, 2003; Mazzone, 2019; Bertoli-Avella, 2021). Based on the available evidence, this alteration is classified as pathogenic. |
OMIM | RCV000012285 | SCV000032519 | pathogenic | X-linked chondrodysplasia punctata 1 | 2003-03-01 | no assertion criteria provided | literature only | |
Gene |
RCV000012285 | SCV000040399 | not provided | X-linked chondrodysplasia punctata 1 | no assertion provided | literature only | ||
Biochemical Molecular Genetic Laboratory, |
RCV000012285 | SCV001190738 | pathogenic | X-linked chondrodysplasia punctata 1 | 2020-02-05 | no assertion criteria provided | clinical testing |