ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser)

gnomAD frequency: 0.00005  dbSNP: rs779966472
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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 RCV001954855 SCV002206508 uncertain significance Deficiency of alpha-mannosidase 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 685 of the MAN2B1 protein (p.Leu685Ser). This variant is present in population databases (rs779966472, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1423612). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV003167258 SCV003884294 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.2054T>C (p.L685S) alteration is located in exon 17 (coding exon 17) of the MAN2B1 gene. This alteration results from a T to C substitution at nucleotide position 2054, causing the leucine (L) at amino acid position 685 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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