ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.464T>C (p.Ile155Thr) (rs1110400)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000254880 SCV000608794 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000254880 SCV000322071 pathogenic not provided 2016-07-01 criteria provided, single submitter clinical testing The I155T variant in the MC1R gene has been reported numerous times in the both the heterozygous and homozygous states in association with MC1R-related phenotypes including red hair, changes in skin pigmentation, and an increased risk for UV exposure-related melanoma (Flanagan et al., 2000; Beaumont et al., 2007; Raimondi et al., 2008; Cust et al., 2012; Puig-Butillé et al., 2013). The NHLBI Exome Sequencing Project reports I155T was observed in 1.05% (90/8598) alleles from individuals of European American ancestry. The I155T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. Functional studies demonstrate that I155T reduces cell surface expression of the MC1R protein and results in loss of cAMP signaling (Beaumont et al., 2007).
Illumina Clinical Services Laboratory,Illumina RCV000395366 SCV000399957 likely benign Malignant Melanoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230390 SCV000287381 benign Cutaneous malignant melanoma 5 2017-12-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247792 SCV000308869 likely benign not specified criteria provided, single submitter clinical testing

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