ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) (rs121964997)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012735 SCV000790225 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2017-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078342 SCV000110188 pathogenic not provided 2013-01-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000012735 SCV000919522 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2018-03-08 criteria provided, single submitter clinical testing Variant summary: HMGCL c.122G>A (p.Arg41Gln) results in a conservative amino acid change located in the Pyruvate carboxyltransferase of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. However, these predictions have yet to be functionally assessed. The variant, c.122G>A, has been reported in the literature in multiple individuals affected with HMG-CoA Lyase Deficiency and has been indicated to be a Saudi Arabian founder mutation (Al-Sayed_2006) . These data indicate that the variant is very likely to be associated with disease. A clinical diagnostic laboratory classifies the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000012735 SCV000032970 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 1998-02-01 no assertion criteria provided literature only

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