ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn)

gnomAD frequency: 0.00022  dbSNP: rs138839321
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533777 SCV000639712 likely benign Biotin-responsive basal ganglia disease 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530059 SCV003692554 uncertain significance Inborn genetic diseases 2021-05-18 criteria provided, single submitter clinical testing The c.1370G>A (p.S457N) alteration is located in exon 6 (coding exon 5) of the SLC19A3 gene. This alteration results from a G to A substitution at nucleotide position 1370, causing the serine (S) at amino acid position 457 to be replaced by an asparagine (N). The p.S457N alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003105950 SCV003761735 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV003105950 SCV004226017 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing

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