ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.625-2A>G

dbSNP: rs2136247666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377259 SCV001574545 likely pathogenic Mucopolysaccharidosis, MPS-III-D 2022-06-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the GNS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GNS are known to be pathogenic (PMID: 20232353). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GNS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1066296). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV001831337 SCV002091721 likely pathogenic Sanfilippo syndrome 2021-07-12 no assertion criteria provided clinical testing

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