Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000640937 | SCV003852677 | benign | Creatine transporter deficiency | 2023-02-23 | reviewed by expert panel | curation | The NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) variant in SLC6A8 is a missense variant predicted to cause substitution of Threonine for Alanine at amino acid 338 (p.Ala338Thr). There is a ClinVar entry for this variant (Variation ID:436771). This variant is found with an allele frequency of 0.003854 in gnomADv2.1.1 with 17 hemizygotes present in that population database. Given the presence of >10 hemizygotes in gnomADv2.1.1 and an allele frequency >0.002, the stand alone benign criteria BA1 is applicable for this variant. In summary, this variant meets the criteria to be classified as Benign for Creatine Transporter Deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (Specifications Version 1.1.0; ; classification approved Feb 23, 2023): BA1 |
Genetic Services Laboratory, |
RCV000499651 | SCV000597120 | uncertain significance | not specified | 2016-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000640937 | SCV000762542 | benign | Creatine transporter deficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092998 | SCV001249763 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SLC6A8: PP2, BS2 |
Gene |
RCV001092998 | SCV001824487 | likely benign | not provided | 2021-03-03 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Previously reported as a non-pathogenic variant in a male with intellectual disability and normal creatine uptake in cultured skin fibroblasts (Betsalel et al, 2011).; This variant is associated with the following publications: (PMID: 28758966, 22281021, 26684475, 20717164, 25861866) |
Ambry Genetics | RCV002323868 | SCV002626263 | benign | Inborn genetic diseases | 2019-11-05 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001834620 | SCV002084559 | likely benign | Creatine deficiency syndrome 1 | 2020-01-24 | no assertion criteria provided | clinical testing |