ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.1034C>T (p.Thr345Ile)

gnomAD frequency: 0.00002  dbSNP: rs750975716
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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 RCV001067363 SCV001232421 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 345 of the NEU1 protein (p.Thr345Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs750975716, ExAC 0.002%). This missense change has been observed in individual(s) with sialidosis (PMID: 14517945). 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV001067363 SCV001246058 pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing

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