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: 3
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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
Labcorp Genetics (formerly Invitae), Labcorp 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).
Ambry Genetics RCV004026066 SCV004994789 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.494G>T (p.S165I) alteration is located in exon 2 (coding exon 2) of the MPLKIP gene. This alteration results from a G to T substitution at nucleotide position 494, causing the serine (S) at amino acid position 165 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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