ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.1961G>A (p.Arg654His)

gnomAD frequency: 0.00003  dbSNP: rs182767534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314045 SCV001504559 uncertain significance Netherton syndrome 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 654 of the SPINK5 protein (p.Arg654His). This variant is present in population databases (rs182767534, gnomAD 0.09%). This missense change has been observed in individual(s) with atopic dermatitis (PMID: 29926005). ClinVar contains an entry for this variant (Variation ID: 1015216). 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.

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