ClinVar Miner

Submissions for variant NM_015693.4(INTU):c.2167G>A (p.Gly723Arg)

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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 RCV002638184 SCV003521723 uncertain significance not provided 2025-01-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 723 of the INTU protein (p.Gly723Arg). This variant is present in population databases (rs201927152, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with INTU-related conditions. ClinVar contains an entry for this variant (Variation ID: 2200376). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt INTU protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV004985262 SCV005601061 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.2167G>A (p.G723R) alteration is located in exon 12 (coding exon 12) of the INTU gene. This alteration results from a G to A substitution at nucleotide position 2167, causing the glycine (G) at amino acid position 723 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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