ClinVar Miner

Submissions for variant NM_006306.3(SMC1A):c.3618+7C>T (rs782267492)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503161 SCV000597205 likely benign not specified 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000816440 SCV000956949 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2018-12-28 criteria provided, single submitter clinical testing This sequence change falls in intron 24 of the SMC1A gene. It does not directly change the encoded amino acid sequence of the SMC1A protein. This variant is present in population databases (rs782267492, ExAC 0.01%). This variant has not been reported in the literature in individuals with SMC1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 436819). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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