ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1516G>A (p.Gly506Arg)

dbSNP: rs531830542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576748 SCV001803998 uncertain significance not provided 2024-06-11 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26850479)
Labcorp Genetics (formerly Invitae), Labcorp RCV002568491 SCV003518108 uncertain significance Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 399 of the MITF protein (p.Gly399Arg). This variant is present in population databases (rs531830542, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of MITF-related conditions (PMID: 26850479). ClinVar contains an entry for this variant (Variation ID: 1208422). 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 MITF 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.

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