ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.637A>G (p.Thr213Ala)

gnomAD frequency: 0.00053  dbSNP: rs138340411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351120 SCV001545560 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 213 of the INPPL1 protein (p.Thr213Ala). This variant is present in population databases (rs138340411, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with INPPL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1046549). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV001351120 SCV004137228 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036644 SCV004885677 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.637A>G (p.T213A) alteration is located in exon 5 (coding exon 5) of the INPPL1 gene. This alteration results from a A to G substitution at nucleotide position 637, causing the threonine (T) at amino acid position 213 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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