ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.682G>A (p.Asp228Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002308975 SCV002601301 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003099137 SCV003017009 uncertain significance Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2022-04-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 121 of the MITF protein (p.Asp121Asn). This variant is present in population databases (rs765051386, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MITF-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV003375622 SCV004079292 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-28 criteria provided, single submitter clinical testing The c.361G>A (p.D121N) alteration is located in exon 4 (coding exon 4) of the MITF gene. This alteration results from a G to A substitution at nucleotide position 361, causing the aspartic acid (D) at amino acid position 121 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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