ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4939C>T (p.His1647Tyr)

gnomAD frequency: 0.00006  dbSNP: rs533827285
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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 RCV001899053 SCV002171477 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1647 of the TUBGCP6 protein (p.His1647Tyr). This variant is present in population databases (rs533827285, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. 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"). 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.
Ambry Genetics RCV005300993 SCV005959410 uncertain significance Inborn genetic diseases 2025-01-23 criteria provided, single submitter clinical testing The c.4939C>T (p.H1647Y) alteration is located in exon 22 (coding exon 22) of the TUBGCP6 gene. This alteration results from a C to T substitution at nucleotide position 4939, causing the histidine (H) at amino acid position 1647 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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