ClinVar Miner

Submissions for variant NM_015330.6(SPECC1L):c.1244A>G (p.Gln415Arg)

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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 RCV003572939 SCV004364356 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 415 of the SPECC1L protein (p.Gln415Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SPECC1L-related condition (Invitae). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV003572939 SCV005626873 pathogenic not provided 2024-07-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 37532501, 31953237)

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