ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1964C>T (p.Pro655Leu)

gnomAD frequency: 0.00004  dbSNP: rs202187834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212893 SCV001384495 uncertain significance Charcot-Marie-Tooth disease type 2 2021-11-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 655 of the MED25 protein (p.Pro655Leu). This variant is present in population databases (rs202187834, gnomAD 0.01%). 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: 942827). 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: "Probably Damaging"; 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 RCV002561799 SCV003692316 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.1964C>T (p.P655L) alteration is located in exon 16 (coding exon 16) of the MED25 gene. This alteration results from a C to T substitution at nucleotide position 1964, causing the proline (P) at amino acid position 655 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003130186 SCV003810927 uncertain significance Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 2019-02-19 criteria provided, single submitter clinical testing

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