ClinVar Miner

Submissions for variant NM_002519.3(NPAT):c.2760A>G (p.Gln920=)

dbSNP: rs2134834493
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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 RCV001822390 SCV002066729 uncertain significance not specified 2020-12-14 criteria provided, single submitter clinical testing DNA sequence analysis of the NPAT gene demonstrated a sequence change, c.2760A>G, in exon 13 which does not result in an amino acid change. This sequence change does not appear to have been previously described in patients with NPAT-related disorders and has also not been described in the rge population databases such as ExAC and gnomAD. In silico splice prediction programs provide inconclusive results for this sequence change. As the c.2760A>G sequence change does not result in a change in the NPAT amino acid sequence, it is possible that this change is non-pathogenic and represents a benign sequence variant of the NPAT gene, however functional studies have not been performed to prove this conclusively. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.
Ambry Genetics RCV001822390 SCV002752022 likely benign not specified 2022-05-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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