ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.160T>G (p.Ser54Ala)

dbSNP: rs1553259785
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638167 SCV000759653 uncertain significance Charcot-Marie-Tooth disease, type I 2019-06-05 criteria provided, single submitter clinical testing 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. Different missense substitutions at this codon (p.Ser54Cys, p.Ser54Pro) has been reported in affected individuals, but the clinical significance of these variants is uncertain (PMID: 10093067, 25025039, 10533074). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MPZ-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with alanine at codon 54 of the MPZ protein (p.Ser54Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine.

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