ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.649G>A (p.Val217Met) (rs28940583)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000480504 SCV000337112 likely pathogenic not provided 2015-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000480504 SCV000568559 pathogenic not provided 2017-01-28 criteria provided, single submitter clinical testing The V217M variant in the NEU1 gene has previously been reported in two unrelated individuals with late-onset sialidosis who were also compound heterozygous for another variant in the NEU1 gene (Naganawa et al., 2000). Functional analysis of V217M found that it is associated with significantly reduced, but not absent enzyme activity compared to wild-type (Naganawa et al., 2000). Therefore we interpret V217M to be a pathogenic variant.
Invitae RCV000480504 SCV001575977 likely pathogenic not provided 2020-07-19 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 217 of the NEU1 protein (p.Val217Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs28940583, ExAC 0.1%). This variant has been observed in individual(s) with sialidosis type I (PMID: 10944856, 32485644). ClinVar contains an entry for this variant (Variation ID: 2449). This variant has been reported to affect NEU1 protein function (PMID: 10944856, 11829139). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000002553 SCV000022711 pathogenic Sialidosis type I 2000-01-01 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000480504 SCV000801710 pathogenic not provided 2017-05-16 no assertion criteria provided clinical testing

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