ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3636G>T (p.Trp1212Cys)

gnomAD frequency: 0.00001  dbSNP: rs1307570133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338093 SCV001531733 uncertain significance not provided 2022-10-24 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1035252). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 1212 of the TUBGCP6 protein (p.Trp1212Cys).
Ambry Genetics RCV002546838 SCV003600448 uncertain significance Inborn genetic diseases 2022-01-27 criteria provided, single submitter clinical testing The c.3636G>T (p.W1212C) alteration is located in exon 16 (coding exon 16) of the TUBGCP6 gene. This alteration results from a G to T substitution at nucleotide position 3636, causing the tryptophan (W) at amino acid position 1212 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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