ClinVar Miner

Submissions for variant NM_000939.4(POMC):c.280AGCAGCGGC[4] (p.94SSG[4])

dbSNP: rs10654394
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729456 SCV000857123 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729456 SCV002287568 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This variant, c.280_297dup, results in the insertion of 6 amino acid(s) of the POMC protein (p.Ser94_Gly99dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs10654394, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This variant has been observed in individual(s) with extreme obesity but a second variant was not observed (PMID: 9768693). This variant is also known as the 18bp insertion between codon 73 and 74. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
New York Genome Center RCV003227844 SCV003925419 uncertain significance Obesity due to pro-opiomelanocortin deficiency; Inherited obesity 2022-02-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV004559641 SCV005049400 uncertain significance Inherited obesity 2024-03-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000729456 SCV005187932 uncertain significance not provided criteria provided, single submitter not provided

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