ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)

gnomAD frequency: 0.00011  dbSNP: rs553366477
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051404 SCV001215557 likely benign Familial aplasia of the vermis 2023-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497403 SCV002779574 uncertain significance Joubert syndrome 3 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619491 SCV005112649 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.1642C>T (p.R548C) alteration is located in exon 12 (coding exon 10) of the AHI1 gene. This alteration results from a C to T substitution at nucleotide position 1642, causing the arginine (R) at amino acid position 548 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004731083 SCV005335806 uncertain significance AHI1-related disorder 2024-09-12 no assertion criteria provided clinical testing The AHI1 c.1642C>T variant is predicted to result in the amino acid substitution p.Arg548Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.031% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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