ClinVar Miner

Submissions for variant NM_015693.4(INTU):c.1880A>G (p.Gln627Arg)

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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 RCV002914068 SCV003257406 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002914067 SCV003622089 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.1880A>G (p.Q627R) 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 1880, causing the glutamine (Q) at amino acid position 627 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003961202 SCV004774466 likely benign INTU-related disorder 2022-05-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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