ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser)

gnomAD frequency: 0.00001  dbSNP: rs541195377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989635 SCV001140164 uncertain significance Joubert syndrome 20 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550614 SCV003697479 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.331G>T (p.A111S) alteration is located in exon 1 (coding exon 1) of the TMEM231 gene. This alteration results from a G to T substitution at nucleotide position 331, causing the alanine (A) at amino acid position 111 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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