ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn)

gnomAD frequency: 0.00003  dbSNP: rs568921640
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064320 SCV001229213 likely benign Saldino-Mainzer syndrome 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489683 SCV002775935 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553955 SCV003726295 uncertain significance Inborn genetic diseases 2022-01-18 criteria provided, single submitter clinical testing The c.2746G>A (p.D916N) alteration is located in exon 21 (coding exon 19) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 2746, causing the aspartic acid (D) at amino acid position 916 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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