ClinVar Miner

Submissions for variant NM_001003722.2(GLE1):c.1422C>A (p.Asp474Glu)

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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 RCV002652462 SCV003532997 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.1422C>A (p.D474E) alteration is located in exon 10 (coding exon 10) of the GLE1 gene. This alteration results from a C to A substitution at nucleotide position 1422, causing the aspartic acid (D) at amino acid position 474 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004695336 SCV005190992 uncertain significance not provided criteria provided, single submitter not provided

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