ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1907C>T (p.Ala636Val)

dbSNP: rs775438656
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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 RCV001061474 SCV001226218 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 636 of the CPT1A protein (p.Ala636Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs775438656, ExAC 0.001%). This missense change has been observed in individual(s) with clinical features of CPT1A-related conditions (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001061474 SCV002092943 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-05-25 no assertion criteria provided clinical testing

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