ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.2937G>C (p.Gln979His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002717753 SCV003564063 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.2937G>C (p.Q979H) alteration is located in exon 20 (coding exon 20) of the PTPN23 gene. This alteration results from a G to C substitution at nucleotide position 2937, causing the glutamine (Q) at amino acid position 979 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003111661 SCV003784152 uncertain significance not provided 2021-12-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 979 of the PTPN23 protein (p.Gln979His). This variant is present in population databases (rs760146153, gnomAD 0.01%). 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. 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with PTPN23-related conditions.

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