ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.572G>A (p.Arg191His)

gnomAD frequency: 0.00001  dbSNP: rs781486283
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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 RCV001242567 SCV001415662 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2024-06-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 191 of the TTC21B protein (p.Arg191His). This variant is present in population databases (rs781486283, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. ClinVar contains an entry for this variant (Variation ID: 967609). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TTC21B protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002484331 SCV002796323 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734075 SCV005356108 uncertain significance TTC21B-related disorder 2024-09-23 no assertion criteria provided clinical testing The TTC21B c.572G>A variant is predicted to result in the amino acid substitution p.Arg191His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino 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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