ClinVar Miner

Submissions for variant NM_015693.4(INTU):c.2017A>G (p.Thr673Ala)

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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 RCV003106272 SCV003781591 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with INTU-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine 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. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 673 of the INTU protein (p.Thr673Ala).
Ambry Genetics RCV004634211 SCV005129274 uncertain significance Inborn genetic diseases 2024-04-17 criteria provided, single submitter clinical testing The c.2017A>G (p.T673A) alteration is located in exon 12 (coding exon 12) of the INTU gene. This alteration results from a A to G substitution at nucleotide position 2017, causing the threonine (T) at amino acid position 673 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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