ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4762C>T (p.Pro1588Ser)

gnomAD frequency: 0.00001  dbSNP: rs778198550
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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 RCV002016083 SCV002299442 uncertain significance not provided 2022-03-22 criteria provided, single submitter clinical testing 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. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1588 of the TUBGCP6 protein (p.Pro1588Ser). This variant is present in population databases (rs778198550, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions.
Ambry Genetics RCV002545537 SCV003673334 uncertain significance Inborn genetic diseases 2022-12-14 criteria provided, single submitter clinical testing The c.4762C>T (p.P1588S) alteration is located in exon 21 (coding exon 21) of the TUBGCP6 gene. This alteration results from a C to T substitution at nucleotide position 4762, causing the proline (P) at amino acid position 1588 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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