ClinVar Miner

Submissions for variant NM_003906.5(MCM3AP):c.589G>C (p.Val197Leu)

dbSNP: rs147601190
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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 RCV002051198 SCV002114084 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 197 of the MCM3AP protein (p.Val197Leu). This variant is present in population databases (rs147601190, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MCM3AP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1349970). 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 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.
Revvity Omics, Revvity RCV003132551 SCV003810832 uncertain significance Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 2022-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038854 SCV004905150 uncertain significance Inborn genetic diseases 2022-12-05 criteria provided, single submitter clinical testing The c.589G>C (p.V197L) alteration is located in exon 1 (coding exon 1) of the MCM3AP gene. This alteration results from a G to C substitution at nucleotide position 589, causing the valine (V) at amino acid position 197 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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