ClinVar Miner

Submissions for variant NM_006739.4(MCM5):c.83A>C (p.Lys28Thr)

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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 RCV002952726 SCV003270766 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2059300). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with MCM5-related conditions. This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 28 of the MCM5 protein (p.Lys28Thr). This variant is present in population databases (rs200623346, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant.
Ambry Genetics RCV004067185 SCV004902980 uncertain significance not specified 2023-11-28 criteria provided, single submitter clinical testing The c.83A>C (p.K28T) alteration is located in exon 2 (coding exon 1) of the MCM5 gene. This alteration results from a A to C substitution at nucleotide position 83, causing the lysine (K) at amino acid position 28 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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