ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)

dbSNP: rs529850410
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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 RCV001046318 SCV001210215 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479285 SCV002777964 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-05-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553583 SCV004111340 uncertain significance IFT172-related disorder 2024-02-08 no assertion criteria provided clinical testing The IFT172 c.4960A>G variant is predicted to result in the amino acid substitution p.Met1654Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of South Asian descent in gnomAD. 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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