ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.455A>C (p.Asp152Ala)

gnomAD frequency: 0.00006  dbSNP: rs145726127
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504392 SCV000597618 uncertain significance not specified 2015-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001372155 SCV001568762 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-07-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 152 of the TTC21B protein (p.Asp152Ala). This variant is present in population databases (rs145726127, gnomAD 0.01%). 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: 437077). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV003328590 SCV004035459 uncertain significance not provided 2023-03-15 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
Ambry Genetics RCV004023405 SCV004972697 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.455A>C (p.D152A) alteration is located in exon 5 (coding exon 5) of the TTC21B gene. This alteration results from a A to C substitution at nucleotide position 455, causing the aspartic acid (D) at amino acid position 152 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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