ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala)

gnomAD frequency: 0.00004  dbSNP: rs553301895
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002506738 SCV002815770 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539697 SCV003729100 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.3713A>C (p.E1238A) alteration is located in exon 34 (coding exon 34) of the IFT172 gene. This alteration results from a A to C substitution at nucleotide position 3713, causing the glutamic acid (E) at amino acid position 1238 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001699869 SCV005688402 uncertain significance not provided 2024-08-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genetics, Academic Medical Center RCV001699869 SCV001924595 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699869 SCV001975160 uncertain significance not provided no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815594 SCV005071279 uncertain significance Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004738363 SCV005346456 uncertain significance IFT172-related disorder 2024-08-06 no assertion criteria provided clinical testing The IFT172 c.3713A>C variant is predicted to result in the amino acid substitution p.Glu1238Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0094% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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