ClinVar Miner

Submissions for variant NM_001776.6(ENTPD1):c.1289C>T (p.Thr430Ile)

gnomAD frequency: 0.00001  dbSNP: rs758827298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848417 SCV002104632 uncertain significance Hereditary spastic paraplegia 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034758 SCV002182396 uncertain significance Hereditary spastic paraplegia 64 2021-11-19 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with ENTPD1-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 430 of the ENTPD1 protein (p.Thr430Ile). This variant is present in population databases (rs758827298, gnomAD 0.007%).
Ambry Genetics RCV005330928 SCV005994588 uncertain significance Inborn genetic diseases 2025-03-05 criteria provided, single submitter clinical testing The c.1325C>T (p.T442I) alteration is located in exon 9 (coding exon 9) of the ENTPD1 gene. This alteration results from a C to T substitution at nucleotide position 1325, causing the threonine (T) at amino acid position 442 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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