ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2324C>T (p.Ala775Val)

gnomAD frequency: 0.00001  dbSNP: rs753608608
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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 RCV001938787 SCV002202359 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-10-05 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1429151). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is present in population databases (rs753608608, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 775 of the TTC21B protein (p.Ala775Val).
Breakthrough Genomics, Breakthrough Genomics RCV004693992 SCV005187988 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005023473 SCV005651258 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-03-17 criteria provided, single submitter clinical testing

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