ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2353C>T (p.His785Tyr)

gnomAD frequency: 0.00004  dbSNP: rs1327337684
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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 RCV001067710 SCV001232781 uncertain significance not provided 2024-10-26 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 785 of the TUBGCP6 protein (p.His785Tyr). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 861233). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004963095 SCV005527354 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.2353C>T (p.H785Y) alteration is located in exon 14 (coding exon 14) of the TUBGCP6 gene. This alteration results from a C to T substitution at nucleotide position 2353, causing the histidine (H) at amino acid position 785 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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