ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.727G>A (p.Gly243Arg)

gnomAD frequency: 0.00001  dbSNP: rs104893983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078816 SCV000110676 pathogenic not provided 2013-06-28 criteria provided, single submitter clinical testing
Invitae RCV000078816 SCV004293266 likely pathogenic not provided 2023-06-20 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects NEU1 function (PMID: 10944856). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NEU1 protein function. ClinVar contains an entry for this variant (Variation ID: 2450). This missense change has been observed in individual(s) with sialidosis type I (PMID: 10944856, 19415310). This variant is present in population databases (rs104893983, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 243 of the NEU1 protein (p.Gly243Arg).
OMIM RCV000002554 SCV000022712 pathogenic Sialidosis type 1 2000-01-01 no assertion criteria provided literature only

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