ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)

gnomAD frequency: 0.00007  dbSNP: rs762885961
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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 RCV001955148 SCV002217474 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV002243486 SCV002513542 uncertain significance not provided 2023-05-03 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
Fulgent Genetics, Fulgent Genetics RCV002479500 SCV002780197 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561508 SCV003704847 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.970T>G (p.S324A) alteration is located in exon 9 (coding exon 9) of the TTC21B gene. This alteration results from a T to G substitution at nucleotide position 970, causing the serine (S) at amino acid position 324 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002243486 SCV004236987 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734357 SCV005350326 uncertain significance TTC21B-related disorder 2024-09-10 no assertion criteria provided clinical testing The TTC21B c.970T>G variant is predicted to result in the amino acid substitution p.Ser324Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.084% of alleles in individuals of Latino 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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