ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.633C>T (p.Ala211=)

gnomAD frequency: 0.00001  dbSNP: rs370124069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756248 SCV000883998 likely benign not provided 2018-04-06 criteria provided, single submitter clinical testing The c.633C>T; p.Ala211Ala variant does not alter the amino acid sequence of the HMGCS2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with mitochondrial disease in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.008% (identified on 2 out of 245,900 chromosomes). Based on the available information, the c.633C>T variant is likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001465339 SCV001669323 likely benign 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2020-11-21 criteria provided, single submitter clinical testing

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