ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)

gnomAD frequency: 0.00030  dbSNP: rs145541911
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303423 SCV001492669 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490732 SCV002790546 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-05-19 criteria provided, single submitter clinical testing
GeneDx RCV003153361 SCV003842729 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24140113, 28118382)
Ambry Genetics RCV003278664 SCV003955753 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.886C>T (p.R296W) alteration is located in exon 9 (coding exon 9) of the IFT172 gene. This alteration results from a C to T substitution at nucleotide position 886, causing the arginine (R) at amino acid position 296 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004549522 SCV004106372 uncertain significance IFT172-related disorder 2024-02-16 criteria provided, single submitter clinical testing The IFT172 c.886C>T variant is predicted to result in the amino acid substitution p.Arg296Trp. This variant was reported in the homozygous state in an individual with Mainzer-Saldino syndrome; however, no additional functional or familial segregation studies confirmed the pathogenicity of this change (Halbritter et al. 2013. PubMed ID: 24140113). This variant has an allele frequency up to ~0.1% in some populations, which is higher than expected for a fully penetrant IFT172 variant. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
OMIM RCV000083274 SCV000115354 pathogenic Short-rib thoracic dysplasia 10 without polydactyly 2013-11-07 no assertion criteria provided literature only

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