ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys)

dbSNP: rs374204240
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203099 SCV000258157 uncertain significance not specified 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV001504777 SCV001709663 likely benign not provided 2022-10-24 criteria provided, single submitter clinical testing
GeneDx RCV001504777 SCV003194956 uncertain significance not provided 2023-01-16 criteria provided, single submitter clinical testing Identified in a patient with a clinical diagnosis of Raine syndrome, including microcephaly, dysmorphic features, osteosclerosis, and developmental delay who also harbored the R1128K variant in TUBGCP6 and was homozygous for a variant in FAM20C; authors attributed patient phenotype to homozygosity of FAM20C variant (Sheth et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29751744)

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