ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)

dbSNP: rs80356774
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790812 SCV000230181 pathogenic not provided 2013-09-10 criteria provided, single submitter clinical testing
Counsyl RCV000009630 SCV000797175 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000009630 SCV002240301 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln100*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 12189492). ClinVar contains an entry for this variant (Variation ID: 9063). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009630 SCV000029848 pathogenic Carnitine palmitoyl transferase 1A deficiency 2002-08-01 no assertion criteria provided literature only
GeneReviews RCV000009630 SCV000086868 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only

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