ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln)

gnomAD frequency: 0.00016  dbSNP: rs140908725
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936014 SCV002188221 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484516 SCV002775366 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-06-12 criteria provided, single submitter clinical testing
GeneDx RCV003151870 SCV003840563 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004043555 SCV004972690 likely benign Inborn genetic diseases 2023-11-03 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.
Breakthrough Genomics, Breakthrough Genomics RCV003151870 SCV005187983 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004734339 SCV005360108 uncertain significance TTC21B-related disorder 2024-09-10 no assertion criteria provided clinical testing The TTC21B c.3131G>A variant is predicted to result in the amino acid substitution p.Arg1044Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% of alleles in individuals of African 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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