ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.253A>T (p.Thr85Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004684482 SCV005175342 uncertain significance Inborn genetic diseases 2024-06-16 criteria provided, single submitter clinical testing The c.253A>T (p.T85S) alteration is located in exon 3 (coding exon 2) of the TMEM138 gene. This alteration results from a A to T substitution at nucleotide position 253, causing the threonine (T) at amino acid position 85 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005051462 SCV005683807 uncertain significance Joubert syndrome 16 2024-04-01 criteria provided, single submitter clinical testing

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