ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)

gnomAD frequency: 0.00001  dbSNP: rs80356780
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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) RCV000723829 SCV000226603 pathogenic not provided 2014-07-14 criteria provided, single submitter clinical testing
Counsyl RCV000009638 SCV000486325 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2016-05-09 criteria provided, single submitter clinical testing
Invitae RCV000009638 SCV004270238 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-04-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this missense change affects CPT1A function (PMID: 11350182). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CPT1A protein function. ClinVar contains an entry for this variant (Variation ID: 9071). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 11350183). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs80356780, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 710 of the CPT1A protein (p.Gly710Glu).
OMIM RCV000009638 SCV000029856 pathogenic Carnitine palmitoyl transferase 1A deficiency 2001-05-01 no assertion criteria provided literature only
GeneReviews RCV000009638 SCV000086866 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only

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