ClinVar Miner

Submissions for variant NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile)

gnomAD frequency: 0.00002  dbSNP: rs778910338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662084 SCV000784421 uncertain significance Trichothiodystrophy 4, nonphotosensitive 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV001855399 SCV002247099 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MPLKIP-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 548559). This variant is present in population databases (rs778910338, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 165 of the MPLKIP protein (p.Ser165Ile).

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