ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1408G>T (p.Ala470Ser)

dbSNP: rs756326862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557344 SCV000632588 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 470 of the CPT2 protein (p.Ala470Ser). This variant is present in population databases (rs756326862, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 460424). 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 not expected to disrupt CPT2 protein function. 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.
Ambry Genetics RCV004609429 SCV005104627 uncertain significance Inborn genetic diseases 2024-03-29 criteria provided, single submitter clinical testing The c.1408G>T (p.A470S) alteration is located in exon 4 (coding exon 4) of the CPT2 gene. This alteration results from a G to T substitution at nucleotide position 1408, causing the alanine (A) at amino acid position 470 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005027631 SCV005649146 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-04-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000557344 SCV002090303 uncertain significance Carnitine palmitoyltransferase II deficiency 2019-10-28 no assertion criteria provided clinical testing

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