ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)

gnomAD frequency: 0.00049  dbSNP: rs139229844
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622689 SCV000741472 uncertain significance Inborn genetic diseases 2016-05-03 criteria provided, single submitter clinical testing
Invitae RCV000797619 SCV000937187 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001561475 SCV001784088 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002491337 SCV002776376 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403433 SCV004105298 uncertain significance IFT172-related condition 2024-02-13 criteria provided, single submitter clinical testing The IFT172 c.2597A>G variant is predicted to result in the amino acid substitution p.Gln866Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of African descent in gnomAD, which is likely too common for an unreported disease-causing variant. Although we suspect that this variant may be benign, 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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