ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.1131-4T>C

gnomAD frequency: 0.00003  dbSNP: rs752780415
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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 RCV000391817 SCV000354503 uncertain significance Warburg micro syndrome 2 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.
Illumina Laboratory Services, Illumina RCV000304830 SCV000354504 uncertain significance Martsolf 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.
Invitae RCV002520417 SCV003254332 likely benign Martsolf syndrome; Warburg micro syndrome 2 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520418 SCV003564103 uncertain significance Inborn genetic diseases 2021-06-02 criteria provided, single submitter clinical testing The c.1131-4T>C intronic alteration consists of a T to C substitution 4 nucleotides before coding exon 13 in the RAB3GAP2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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