ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.743C>T (p.Thr248Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796550 SCV005416346 uncertain significance Atypical glycine encephalopathy criteria provided, single submitter clinical testing PM2+PP3
Ambry Genetics RCV004968665 SCV005510341 uncertain significance Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing The c.962C>T (p.T321M) alteration is located in exon 7 (coding exon 7) of the SLC6A9 gene. This alteration results from a C to T substitution at nucleotide position 962, causing the threonine (T) at amino acid position 321 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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