ClinVar Miner

Submissions for variant NM_002519.3(NPAT):c.1085A>G (p.Asp362Gly)

dbSNP: rs2078005237
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003151582 SCV003863198 uncertain significance not specified 2022-12-11 criteria provided, single submitter clinical testing The p.D362G variant (also known as c.1085A>G), located in coding exon 12 of the NPAT gene, results from an A to G substitution at nucleotide position 1085. The aspartic acid at codon 362 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genetic Services Laboratory, University of Chicago RCV003151582 SCV003839773 uncertain significance not specified 2022-07-18 no assertion criteria provided clinical testing DNA sequence analysis of the NPAT gene demonstrated a sequence change, c.1085A>G, in exon 12 that results in an amino acid change, p.Asp362Gly. This sequence change does not appear to have been previously described in individuals with NPAT-related disorders and has also not been described in population databases such as ExAC and gnomAD. The p.Asp362Gly change affects a moderately conserved amino acid residue. The p.Asp362Gly substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Asp362Gly change remains unknown at this time.

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