ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3267_3672del (p.Ser1089fs)

dbSNP: rs2519133759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003480012 SCV004190199 likely pathogenic Microcephaly and chorioretinopathy 1 2023-12-25 criteria provided, single submitter clinical testing Loss of functions variants are known to cause disease as the disease mechanism [PVS1]. This variant is not present in population databases gnomAD). This heterozygous ~405 bases deletion found in a compound heterozygous state along with a 11 base frameshift deletion in 2 similarly afftected individuals of the same family.

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