ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu)

gnomAD frequency: 0.00002  dbSNP: rs766566496
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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 RCV002027224 SCV002312929 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1517264). 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. This variant has not been reported in the literature in individuals affected with SLC6A19-related conditions. This variant is present in population databases (rs766566496, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 33 of the SLC6A19 protein (p.Pro33Leu).
Fulgent Genetics, Fulgent Genetics RCV002486739 SCV002789400 uncertain significance Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-12-31 criteria provided, single submitter clinical testing

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