ClinVar Miner

Submissions for variant NM_000939.4(POMC):c.795G>A (p.Lys265=)

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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 RCV005101535 SCV005813209 uncertain significance not provided 2024-04-02 criteria provided, single submitter clinical testing This sequence change affects codon 265 of the POMC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POMC protein. This variant is present in population databases (rs777772852, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with POMC-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
PreventionGenetics, part of Exact Sciences RCV004531905 SCV004715130 likely benign POMC-related disorder 2021-02-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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