ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His)

gnomAD frequency: 0.00088  dbSNP: rs200622688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001144673 SCV001305286 uncertain significance Gray platelet syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV003246721 SCV003950806 uncertain significance Inborn genetic diseases 2023-03-23 criteria provided, single submitter clinical testing The c.5021G>A (p.R1674H) alteration is located in exon 31 (coding exon 31) of the NBEAL2 gene. This alteration results from a G to A substitution at nucleotide position 5021, causing the arginine (R) at amino acid position 1674 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Birmingham Platelet Group; University of Birmingham RCV001270594 SCV001450893 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001144673 SCV004099369 uncertain significance Gray platelet syndrome 2023-10-30 no assertion criteria provided clinical testing

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