ClinVar Miner

Submissions for variant NM_005912.3(MC4R):c.281G>A (p.Ser94Asn)

dbSNP: rs772213710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432683 SCV000521302 likely pathogenic not provided 2024-02-08 criteria provided, single submitter clinical testing Identified in in two individuals with obesity in published literature (PMID: 25587224, 18559663); Published functional studies demonstrate a damaging effect (decreased protein expression and reduced response to alpha-melanocyte stimulating hormone compared to wild type) (PMID: 21729752); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25332687, 31002796, 25587224, 18559663, 21729752)

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