ClinVar Miner

Submissions for variant NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser)

gnomAD frequency: 0.00001  dbSNP: rs771770775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330814 SCV001522631 uncertain significance Spastic ataxia 4 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546416 SCV002944005 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1029511). This variant has not been reported in the literature in individuals affected with MTPAP-related conditions. This variant is present in population databases (rs771770775, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 281 of the MTPAP protein (p.Thr281Ser).
PreventionGenetics, part of Exact Sciences RCV003405558 SCV004116427 uncertain significance MTPAP-related disorder 2023-06-27 criteria provided, single submitter clinical testing The MTPAP c.842C>G variant is predicted to result in the amino acid substitution p.Thr281Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-30615503-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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