ClinVar Miner

Submissions for variant NM_018109.4(MTPAP):c.1640A>G (p.Asn547Ser)

gnomAD frequency: 0.00002  dbSNP: rs372811219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607289 SCV000715267 likely benign not specified 2017-01-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529397 SCV003444913 uncertain significance not provided 2022-04-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MTPAP-related conditions. This variant is present in population databases (rs372811219, gnomAD 0.004%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 547 of the MTPAP protein (p.Asn547Ser). ClinVar contains an entry for this variant (Variation ID: 506930). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 tolerated.

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