ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)

gnomAD frequency: 0.00007  dbSNP: rs370903625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001863567 SCV002108793 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164055 SCV003875230 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.877G>A (p.A293T) alteration is located in exon 9 (coding exon 9) of the IFT172 gene. This alteration results from a G to A substitution at nucleotide position 877, causing the alanine (A) at amino acid position 293 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023295 SCV005651489 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738398 SCV005345558 uncertain significance IFT172-related disorder 2024-05-18 no assertion criteria provided clinical testing The IFT172 c.877G>A variant is predicted to result in the amino acid substitution p.Ala293Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be benign, the clinical significance of this variant is classified as uncertain at this time due to insufficient functional and genetic evidence.

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