ClinVar Miner

Submissions for variant NM_001776.6(ENTPD1):c.259A>G (p.Lys87Glu)

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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 RCV002895769 SCV003249598 uncertain significance Hereditary spastic paraplegia 64 2022-06-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs146324431, gnomAD 0.02%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ENTPD1-related conditions. This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 87 of the ENTPD1 protein (p.Lys87Glu).
Ambry Genetics RCV004066099 SCV004863049 uncertain significance Inborn genetic diseases 2024-02-26 criteria provided, single submitter clinical testing The c.295A>G (p.K99E) alteration is located in exon 3 (coding exon 3) of the ENTPD1 gene. This alteration results from a A to G substitution at nucleotide position 295, causing the lysine (K) at amino acid position 99 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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