ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly)

dbSNP: rs1753847242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003595704 SCV001417221 uncertain significance Ichthyosis linearis circumflexa 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 561 of the SPINK5 protein (p.Glu561Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with chronic otitis media, asthma, dry skin, and eczema (PMID: 32709676). ClinVar contains an entry for this variant (Variation ID: 918078). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SPINK5 protein function. 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 RCV001545943 SCV001765369 uncertain significance not provided 2020-11-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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: 32709676)
Santos-Cortez Lab, University of Colorado School of Medicine RCV001260957 SCV001338935 pathogenic Susceptibility to nonsyndromic otitis media 2020-04-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001543375 SCV001761933 likely pathogenic Otitis media, susceptibility to no assertion criteria provided research

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