ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141279 SCV003823067 uncertain significance Joubert syndrome 3 2021-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003341545 SCV004074048 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.1868T>C (p.I623T) alteration is located in exon 13 (coding exon 11) of the AHI1 gene. This alteration results from a T to C substitution at nucleotide position 1868, causing the isoleucine (I) at amino acid position 623 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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