ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.473-20_473-19del

gnomAD frequency: 0.00004  dbSNP: rs762957362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521938 SCV000618290 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TCTN1 gene. The c.473-20_473-19delCT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.473-20_473-19delCT variant is observed in 1/7002 (0.01%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In-silico splice prediction models predict that c.473-20_473-19delCT damages or destroys the natural splice acceptor site of intron 20, which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857965 SCV002264429 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-05-23 criteria provided, single submitter clinical testing

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