ClinVar Miner

Submissions for variant NM_002386.4(MC1R):c.725C>T (p.Thr242Ile)

gnomAD frequency: 0.00007  dbSNP: rs200051702
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552416 SCV000648554 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 5 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 242 of the MC1R protein (p.Thr242Ile). This variant is present in population databases (rs200051702, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of MC1R-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 470710). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MC1R protein function. 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.
Illumina Laboratory Services, Illumina RCV000552416 SCV001279602 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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