ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys)

gnomAD frequency: 0.00001  dbSNP: rs575582124
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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 RCV001070388 SCV001235615 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2020-06-12 criteria provided, single submitter clinical testing This variant is present in population databases (rs575582124, ExAC 0.09%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with AMPD2-related conditions. This sequence change replaces tyrosine with cysteine at codon 197 of the AMPD2 protein (p.Tyr197Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine.

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