ClinVar Miner

Submissions for variant NM_002532.6(NUP88):c.16G>A (p.Gly6Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003142655 SCV003814217 uncertain significance Fetal akinesia deformation sequence 4 2021-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004654182 SCV005144457 uncertain significance not specified 2024-05-02 criteria provided, single submitter clinical testing The c.16G>A (p.G6R) alteration is located in exon 1 (coding exon 1) of the NUP88 gene. This alteration results from a G to A substitution at nucleotide position 16, causing the glycine (G) at amino acid position 6 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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