ClinVar Miner

Submissions for variant NM_016630.7(SPG21):c.625G>A (p.Val209Met)

dbSNP: rs1339771718
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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 RCV000818551 SCV000959170 uncertain significance Mast syndrome 2022-02-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SPG21-related conditions. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 209 of the SPG21 protein (p.Val209Met). This variant is present in population databases (no rsID available, gnomAD 0.0009%). ClinVar contains an entry for this variant (Variation ID: 661183). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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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