ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) (rs786205431)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000032616 SCV000797207 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2018-01-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724623 SCV000232919 pathogenic not provided 2015-02-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000032616 SCV000919524 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2018-09-24 criteria provided, single submitter clinical testing Variant summary: HMGCL c.914_915delTT (p.Phe305TyrfsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 7.2e-06 in 277236 control chromosomes. c.914_915delTT has been reported in the literature in two homozygous individuals affected with HMG-CoA Lyase Deficiency (Mitchell_1998). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and both classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000032616 SCV000056376 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 1998-02-01 no assertion criteria provided literature only

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