Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV001171522 | SCV002318728 | uncertain significance | Neutral 1 amino acid transport defect | 2022-03-22 | criteria provided, single submitter | clinical testing | Same nucleotide change resulting in same amino acid change has been previously reported to be associated with [GeneName] related disorder (ClinVar ID: VCV000916043, PMID:20399395). The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000079). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.692>=0.6). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |
Invitae | RCV002559643 | SCV003525634 | uncertain significance | not provided | 2022-06-25 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC6A19 protein function. ClinVar contains an entry for this variant (Variation ID: 916043). This missense change has been observed in individual(s) with Hartnup disorder (PMID: 20399395). This variant is present in population databases (rs201212000, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 303 of the SLC6A19 protein (p.Ser303Leu). |
OMIM | RCV001171522 | SCV001334307 | pathogenic | Neutral 1 amino acid transport defect | 2023-03-21 | no assertion criteria provided | literature only |