ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)

dbSNP: rs746597294
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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 RCV001213486 SCV001385118 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 1234 of the IFT172 protein (p.Asn1234His). This variant is present in population databases (rs746597294, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. ClinVar contains an entry for this variant (Variation ID: 943315). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IFT172 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
New York Genome Center RCV001213486 SCV002764323 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2020-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497726 SCV002781125 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163624 SCV003878250 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.3700A>C (p.N1234H) alteration is located in exon 33 (coding exon 33) of the IFT172 gene. This alteration results from a A to C substitution at nucleotide position 3700, causing the asparagine (N) at amino acid position 1234 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004548068 SCV004115566 uncertain significance IFT172-related disorder 2023-08-30 criteria provided, single submitter clinical testing The IFT172 c.3700A>C variant is predicted to result in the amino acid substitution p.Asn1234His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0036% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-27676860-T-G). 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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