Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000675637 | SCV000224967 | uncertain significance | not provided | 2014-05-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000675637 | SCV000582943 | uncertain significance | not provided | 2018-06-22 | criteria provided, single submitter | clinical testing | The N413Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N413Y variant is observed in 116/18,784 (0.62%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The N413Y variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001079321 | SCV001115122 | benign | Glycogen storage disease, type V | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001079321 | SCV004562981 | uncertain significance | Glycogen storage disease, type V | 2023-08-17 | criteria provided, single submitter | clinical testing | The PYGM c.1237A>T; p.Asn413Tyr variant (rs142054672), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 193681). This variant is found in the African/African-American population with an allele frequency of 0.6% (125/19,752 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is deleterious (REVEL: 0711). While the relatively high population frequency suggests that this is likely a benign variant, given the lack of clinical and functional data, the significance of the p.Asn413Tyr variant is uncertain at this time. |
Prevention |
RCV003937552 | SCV004756346 | likely benign | PYGM-related condition | 2019-06-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Mayo Clinic Laboratories, |
RCV000675637 | SCV000801338 | uncertain significance | not provided | 2017-05-24 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001079321 | SCV001452660 | uncertain significance | Glycogen storage disease, type V | 2020-04-14 | no assertion criteria provided | clinical testing |