ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.56C>T (p.Thr19Met)

gnomAD frequency: 0.00003  dbSNP: rs758016497
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237189 SCV001409940 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2019-09-09 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 19 of the PARK7 protein (p.Thr19Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs758016497, ExAC 0.02%). This variant has not been reported in the literature in individuals with PARK7-related conditions. 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: "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.

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