ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)

gnomAD frequency: 0.00004  dbSNP: rs76076247
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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 RCV001057892 SCV001222413 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505617 SCV002816567 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-05-22 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890205 SCV004705248 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV004031826 SCV004886222 likely benign Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004547963 SCV004748048 likely benign IFT172-related disorder 2023-08-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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