ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys)

dbSNP: rs1437304335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707517 SCV000836618 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2023-10-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 301 of the TTC21B protein (p.Arg301Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with nephronophthisis (PMID: 26489029). ClinVar contains an entry for this variant (Variation ID: 583234). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TTC21B protein function. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279494 SCV002567148 likely pathogenic Connective tissue disorder 2022-04-04 criteria provided, single submitter clinical testing
GeneDx RCV003313138 SCV004012234 uncertain significance not provided 2023-01-05 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; This variant is associated with the following publications: (PMID: 26489029)
Fulgent Genetics, Fulgent Genetics RCV005021104 SCV005653362 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-06-25 criteria provided, single submitter clinical testing

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