ClinVar Miner

Submissions for variant NM_002532.6(NUP88):c.1117C>T (p.Leu373Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148364 SCV003835163 uncertain significance Fetal akinesia deformation sequence 4 2021-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246158 SCV004994696 uncertain significance not specified 2023-10-02 criteria provided, single submitter clinical testing The c.1117C>T (p.L373F) alteration is located in exon 7 (coding exon 7) of the NUP88 gene. This alteration results from a C to T substitution at nucleotide position 1117, causing the leucine (L) at amino acid position 373 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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