Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000554178 | SCV002600169 | benign | Creatine transporter deficiency | 2022-06-06 | reviewed by expert panel | curation | The NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) variant in SLC6A8 is a synonymous single nucleotide variant that does not change the amino acid sequence at this position. In gnomAD v2.1.1, the highest population minor allele frequency is 0.005489 (62/11296 alleles) in the European population, with 10 hemizygotes present. The presence of 10 hemizygotes in the gnomAD dataset meets BA1 standalone criteria for Creatine Transporter Deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (<10 hemizygotes in population database). This variant has not been previously reported in affected individuals in the literature. There is a ClinVar entry for this variant (Variation ID:380589). 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 1.0): BA1. (Classification approved by the ClinGen CCDS VCEP on June 6, 2022). |
Gene |
RCV001703606 | SCV000518804 | benign | not provided | 2018-07-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000554178 | SCV000640037 | likely benign | Creatine transporter deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313053 | SCV000848279 | likely benign | Inborn genetic diseases | 2016-11-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Ce |
RCV001703606 | SCV004702958 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | SLC6A8: BP4, BP7, BS2 |