ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu)

gnomAD frequency: 0.00001  dbSNP: rs201212000
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Total submissions: 3
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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

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