ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met)

gnomAD frequency: 0.00001  dbSNP: rs367543104
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000084669 SCV002200913 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 218 of the DTNBP1 protein (p.Ile218Met). This variant is present in population databases (rs367543104, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DTNBP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 98378). 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"). 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.
PreventionGenetics, part of Exact Sciences RCV003407473 SCV004113485 uncertain significance DTNBP1-related condition 2023-06-09 criteria provided, single submitter clinical testing The DTNBP1 c.654T>G variant is predicted to result in the amino acid substitution p.Ile218Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-15533484-A-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Psychiatry Genetics Yale University RCV000084669 SCV000116805 not provided not provided no assertion provided not provided
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003444199 SCV004171639 uncertain significance Hermansky-Pudlak syndrome 7 2023-11-24 no assertion criteria provided clinical testing

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