ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.876-3C>T

gnomAD frequency: 0.00045  dbSNP: rs73323465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241392 SCV001414406 uncertain significance Mucopolysaccharidosis, MPS-III-D 2022-09-27 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the GNS gene. It does not directly change the encoded amino acid sequence of the GNS protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs73323465, gnomAD 0.2%). 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: 966660). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Natera, Inc. RCV001835100 SCV002091716 uncertain significance Sanfilippo syndrome 2020-03-05 no assertion criteria provided clinical testing

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