ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2807A>C (p.Asp936Ala)

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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 RCV004635644 SCV005121071 uncertain significance Inborn genetic diseases 2024-06-17 criteria provided, single submitter clinical testing The c.2960A>C (p.D987A) alteration is located in exon 24 (coding exon 24) of the IFT122 gene. This alteration results from a A to C substitution at nucleotide position 2960, causing the aspartic acid (D) at amino acid position 987 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038754 SCV005661387 uncertain significance Cranioectodermal dysplasia 1 2024-04-15 criteria provided, single submitter clinical testing

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