ClinVar Miner

Submissions for variant NM_016630.7(SPG21):c.223G>A (p.Ala75Thr)

gnomAD frequency: 0.00009  dbSNP: rs760497590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230890 SCV000290237 uncertain significance Mast syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 75 of the SPG21 protein (p.Ala75Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs760497590, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with SPG21-related conditions. ClinVar contains an entry for this variant (Variation ID: 241114). 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.
Athena Diagnostics RCV000517131 SCV000615428 uncertain significance not specified 2017-06-19 criteria provided, single submitter clinical testing

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