ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro)

dbSNP: rs905741990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002022255 SCV002266423 uncertain significance not provided 2022-11-22 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 expected to disrupt SLC6A19 protein function. ClinVar contains an entry for this variant (Variation ID: 1481259). This variant has not been reported in the literature in individuals affected with SLC6A19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 484 of the SLC6A19 protein (p.Leu484Pro).
Fulgent Genetics, Fulgent Genetics RCV002484920 SCV002779645 uncertain significance Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2022-05-17 criteria provided, single submitter clinical testing

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