ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.4162A>G (p.Ile1388Val)

gnomAD frequency: 0.00009  dbSNP: rs149160247
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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 RCV001958460 SCV002219287 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1388 of the PTPN23 protein (p.Ile1388Val). This variant is present in population databases (rs149160247, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PTPN23-related conditions. ClinVar contains an entry for this variant (Variation ID: 1446241). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The valine 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 RCV004043760 SCV004935260 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.4162A>G (p.I1388V) alteration is located in exon 22 (coding exon 22) of the PTPN23 gene. This alteration results from a A to G substitution at nucleotide position 4162, causing the isoleucine (I) at amino acid position 1388 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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