ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly)

dbSNP: rs1354455514
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001135804 SCV001295608 uncertain significance Asphyxiating thoracic dystrophy 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001135805 SCV001295609 uncertain significance Nephronophthisis 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001856733 SCV002199595 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2021-10-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 561 of the TTC21B protein (p.Asp561Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 894628). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is not present in population databases (ExAC no frequency). 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.
Fulgent Genetics, Fulgent Genetics RCV002491405 SCV002783572 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-13 criteria provided, single submitter clinical testing

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