ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)

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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 RCV003448721 SCV004176372 likely pathogenic X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 2023-02-14 criteria provided, single submitter clinical testing The frameshift c.170_173dup(p.Ala59CysfsTer10) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala59CysfsTer10 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Alanine 59, changes this amino acid to Cysteine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Ala59CysfsTer10. 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 Likely Pathogenic.

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