ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.59C>T (p.Thr20Ile)

gnomAD frequency: 0.00001  dbSNP: rs751486617
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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 RCV001213916 SCV001385572 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548070 SCV004113136 uncertain significance IFT172-related disorder 2023-10-03 criteria provided, single submitter clinical testing The IFT172 c.59C>T variant is predicted to result in the amino acid substitution p.Thr20Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.091% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-27708351-G-A). 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.
Ambry Genetics RCV004986951 SCV005604259 uncertain significance Inborn genetic diseases 2024-09-04 criteria provided, single submitter clinical testing The c.59C>T (p.T20I) alteration is located in exon 2 (coding exon 2) of the IFT172 gene. This alteration results from a C to T substitution at nucleotide position 59, causing the threonine (T) at amino acid position 20 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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