ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)

gnomAD frequency: 0.00001  dbSNP: rs754795292
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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 RCV001147256 SCV001308047 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2018-01-13 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 RCV001147256 SCV001705534 likely benign Multiple acyl-CoA dehydrogenase deficiency 2023-12-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001147256 SCV001787026 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001772343 SCV001992713 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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