ClinVar Miner

Submissions for variant NM_002204.4(ITGA3):c.1829A>C (p.Gln610Pro)

gnomAD frequency: 0.00113  dbSNP: rs143785911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949822 SCV001096093 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000949822 SCV005333185 uncertain significance not provided 2023-12-12 criteria provided, single submitter clinical testing Observed in a patient with junctional epidermolysis bullosa in published literature, although this individual was found to have variants in other genes associated with and likely responsible for the phenotype (PMID: 29334134); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 29334134)
Clinical Genomics Laboratory, Washington University in St. Louis RCV005051841 SCV005685231 uncertain significance Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 2024-05-26 criteria provided, single submitter clinical testing A ITGA3 c.1829A>C (p.Gln610Pro) variant was identified. This variant has been identified in a heterozygote state in an individual with epidermolysis bullosa and reported as a variant of uncertain significance. (Lucky AW et al., PMID: 29334134). The ITGA3 c.1829A>C (p.Gln610Pro) variant is observed on 105/279,180 alleles in the general population (gnomAD v.2.1.1) and been reported in the ClinVar database as a likely benign by two submitters (ClinVar ID: 770642). Computational predictors suggest that the variant does not impact ITGA3 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.
PreventionGenetics, part of Exact Sciences RCV003943019 SCV004768142 likely benign ITGA3-related disorder 2022-04-02 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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