ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.247T>C (p.Ser83Pro) (rs34474212)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489013 SCV000577656 likely pathogenic not provided 2015-07-31 criteria provided, single submitter clinical testing The S83P variant in the MC1R gene has been reported previously in association with red hair and melanoma (John et al., 2002; Puig-Butillé et al., 2013). One study showed S83P was predicted to have structural consequences by in silico modeling. However, the odds ratio for melanoma was only 0.24 for the S83P variant (Ibarrola-Villava et al., 2014). Another study investigated the skin of French women by using a spectrophotometric instrument. No significant differences in skin color were noted in women who had the S83P variant (Latreille et al., 2009). Though not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports S83P was observed in 10/12944 (0.07% ) alleles from individuals of of European and African American ancestry background, indicating it may be a rare variant in this population. The S83P variant is a non-conservative amino acid substitution, which occurs in the helical transmembrane domain at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function
Illumina Clinical Services Laboratory,Illumina RCV000274825 SCV000399943 likely benign Malignant Melanoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000456463 SCV000556940 benign Cutaneous malignant melanoma 5 2017-12-28 criteria provided, single submitter clinical testing

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