ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser)

gnomAD frequency: 0.00001  dbSNP: rs763212486
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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 RCV002009661 SCV002307304 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the NEU1 mRNA. It is expected to extend the length of the NEU1 protein by 29 additional amino acid residues. This variant is present in population databases (rs763212486, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NEU1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1508078). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002479760 SCV002783363 uncertain significance Sialidosis type 2 2022-03-01 criteria provided, single submitter clinical testing

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