ClinVar Miner

Submissions for variant NM_002204.4(ITGA3):c.2603C>T (p.Ser868Leu)

gnomAD frequency: 0.00001  dbSNP: rs774360825
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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 RCV001866964 SCV002121836 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 868 of the ITGA3 protein (p.Ser868Leu). This variant has not been reported in the literature in individuals affected with ITGA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355535). 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Fulgent Genetics, Fulgent Genetics RCV005023299 SCV005649496 uncertain significance Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 2024-02-21 criteria provided, single submitter clinical testing

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