ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.1090G>A (p.Val364Ile)

gnomAD frequency: 0.00003  dbSNP: rs754011349
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231993 SCV001404534 uncertain significance Febrile seizures, familial, 11 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 364 of the CPA6 protein (p.Val364Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs754011349, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CPA6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002563214 SCV003723698 uncertain significance Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing The c.1090G>A (p.V364I) alteration is located in exon 10 (coding exon 10) of the CPA6 gene. This alteration results from a G to A substitution at nucleotide position 1090, causing the valine (V) at amino acid position 364 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145444 SCV003829926 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing

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