ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.44G>T (p.Gly15Val)

dbSNP: rs1572838053
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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 RCV002003558 SCV002274266 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2021-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486537 SCV002794139 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738482 SCV005341650 uncertain significance IFT172-related disorder 2023-10-28 no assertion criteria provided clinical testing The IFT172 c.44G>T variant is predicted to result in the amino acid substitution p.Gly15Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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