ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys)

gnomAD frequency: 0.00017  dbSNP: rs372599057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029680 SCV002299670 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 515 of the SLC6A19 protein (p.Asn515Lys). This variant is present in population databases (rs372599057, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC6A19-related conditions. ClinVar contains an entry for this variant (Variation ID: 1514953). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002492372 SCV002779071 uncertain significance Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2022-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548811 SCV003565878 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.1545T>A (p.N515K) alteration is located in exon 11 (coding exon 11) of the SLC6A19 gene. This alteration results from a T to A substitution at nucleotide position 1545, causing the asparagine (N) at amino acid position 515 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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