ClinVar Miner

Submissions for variant NM_001776.6(ENTPD1):c.691G>A (p.Glu231Lys)

gnomAD frequency: 0.00002  dbSNP: rs754284810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848423 SCV002104643 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034760 SCV002250745 uncertain significance Hereditary spastic paraplegia 64 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 231 of the ENTPD1 protein (p.Glu231Lys). This variant is present in population databases (rs754284810, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ENTPD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C55". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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