ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)

dbSNP: rs120074139
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055475 SCV001219869 pathogenic Charcot-Marie-Tooth disease type 4 2022-07-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2912). This sequence change creates a premature translational stop signal (p.Arg487*) in the SBF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SBF2 are known to be pathogenic (PMID: 12687498, 25873783). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Charcot–Marie–Tooth disease (PMID: 15304601). It has also been observed to segregate with disease in related individuals.
GeneDx RCV003231071 SCV003929670 pathogenic not provided 2022-12-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 10932274, 31772832, 15304601)
Athena Diagnostics RCV003231071 SCV004229963 pathogenic not provided 2023-05-02 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant appears to segregate with disease in at least one family. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
OMIM RCV004700182 SCV000023204 pathogenic Charcot-Marie-Tooth disease type 4B2 2004-08-10 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790190 SCV000929582 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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