Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236468 | SCV001409192 | pathogenic | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser2136Lysfs*2) in the VPS13A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13A are known to be pathogenic (PMID: 12404112, 21598378). This variant is present in population databases (no rsID available, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with choreo-acanthocytosis (PMID: 11381253, 21598378). This variant is also known as 6404-6405insT, 2135Lfsx1. ClinVar contains an entry for this variant (Variation ID: 4683). For these reasons, this variant has been classified as Pathogenic. |
Centogene AG - |
RCV000004947 | SCV002059769 | pathogenic | Chorea-acanthocytosis | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000004947 | SCV002801662 | likely pathogenic | Chorea-acanthocytosis | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000004947 | SCV004048166 | likely pathogenic | Chorea-acanthocytosis | criteria provided, single submitter | clinical testing | The frameshift variant c.6404dup (p.Ser2136LysfsTer2) in VPS13A gene has been observed in combination with another VPS13A variant in individuals affected with choreo-acanthocytosis (Tomiyasu A et.al.,2011). This variant has been reported to the ClinVar database as Pathogenic. The p.Ser2136LysfsTer2 variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.00003733% is reported in gnomAD. This variant causes a frameshift starting with codon Serine 2136, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Ser2136LysfsTer2. For these reasons, this variant has been classified as Likely Pathogenic. | |
OMIM | RCV000004947 | SCV000025123 | pathogenic | Chorea-acanthocytosis | 2001-06-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000004947 | SCV002078271 | pathogenic | Chorea-acanthocytosis | 2021-03-02 | no assertion criteria provided | clinical testing |