ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.751-3T>C

dbSNP: rs1356054021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246403 SCV001419754 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2022-10-25 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the HMGCL gene. It does not directly change the encoded amino acid sequence of the HMGCL protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 970766). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001246403 SCV001467212 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2020-08-27 no assertion criteria provided clinical testing

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