ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.904C>T (p.Arg302Cys)

gnomAD frequency: 0.00003  dbSNP: rs775122561
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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 RCV000226407 SCV000290960 uncertain significance Charcot-Marie-Tooth disease type 2 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 302 of the MED25 protein (p.Arg302Cys). This variant is present in population databases (rs775122561, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MED25-related conditions. ClinVar contains an entry for this variant (Variation ID: 241615). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Baylor Genetics RCV001332638 SCV001525017 uncertain significance Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 2020-09-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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