ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)

gnomAD frequency: 0.00001  dbSNP: rs146615936
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362818 SCV001558855 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504594 SCV002815119 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-01-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132469 SCV003813251 uncertain significance not provided 2021-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169814 SCV003865127 uncertain significance Inborn genetic diseases 2023-01-06 criteria provided, single submitter clinical testing The c.3368A>G (p.N1123S) alteration is located in exon 30 (coding exon 30) of the IFT172 gene. This alteration results from a A to G substitution at nucleotide position 3368, causing the asparagine (N) at amino acid position 1123 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004738267 SCV005357592 uncertain significance IFT172-related disorder 2024-06-21 no assertion criteria provided clinical testing The IFT172 c.3368A>G variant is predicted to result in the amino acid substitution p.Asn1123Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.085% of alleles in individuals of South Asian 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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