ClinVar Miner

Submissions for variant NM_002386.4(MC1R):c.652G>A (p.Ala218Thr)

gnomAD frequency: 0.00025  dbSNP: rs200965363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000647344 SCV000399969 likely benign Melanoma, cutaneous malignant, susceptibility to, 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000647344 SCV000769134 likely benign Melanoma, cutaneous malignant, susceptibility to, 5 2024-12-26 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001824733 SCV002075135 not provided Melanoma, cutaneous malignant, susceptibility to, 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-03-2021 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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