ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.3773_3774insCAGCGTTCGCCTC (p.Asp1259fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV003226077 SCV003922195 likely pathogenic Gray platelet syndrome 2023-05-02 criteria provided, single submitter curation The homozygous p.Asp1259SerfsTer69 variant in NBEAL2 was identified by our study in one individual with gray platelet syndrome. The homozygous p.Asp1259SerfsTer69 variant in NBEAL2 has not been previously reported in individuals with gray platelet syndrome. This variant was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1259 and leads to a premature termination codon 69 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the NBEAL2 gene is an established disease mechanism in autosomal recessive gray platelet syndrome. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for autosomal recessive gray platelet syndrome. ACMG/AMP Criteria applied: PVS1, PM2_Supporting (Richards 2015).

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