ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs)

dbSNP: rs2121082201
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340764 SCV004047469 pathogenic Glucocorticoid deficiency with achalasia criteria provided, single submitter clinical testing The frame shift (c.1264_1273del) variant has been reported previously in homozygous state in patients affected with Achalasia-addisonianism-alacrimia syndrome (Kurnaz et. al., 2018). The p.Gln422AsnfsTer126 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Glutamine 422, changes this amino acid to Asparagine residue, and creates a premature Stop codon at position 126 of the new reading frame, denoted p.Gln422AsnfsTer126. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic.

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