ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu)

gnomAD frequency: 0.00004  dbSNP: rs201065535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333746 SCV001526420 uncertain significance Atypical glycine encephalopathy 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333746 SCV002306209 uncertain significance Atypical glycine encephalopathy 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 209 of the SLC6A9 protein (p.Ser209Leu). This variant is present in population databases (rs201065535, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC6A9-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031820). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004968047 SCV005510338 uncertain significance Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing The c.626C>T (p.S209L) alteration is located in exon 5 (coding exon 5) of the SLC6A9 gene. This alteration results from a C to T substitution at nucleotide position 626, causing the serine (S) at amino acid position 209 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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