ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.2885A>G (p.Glu962Gly)

gnomAD frequency: 0.00001  dbSNP: rs772801284
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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 RCV001916471 SCV002187442 uncertain significance Netherton syndrome 2022-08-09 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 962 of the SPINK5 protein (p.Glu962Gly). This variant is present in population databases (rs772801284, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SPINK5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1410494). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002555788 SCV003629737 uncertain significance Inborn genetic diseases 2022-06-10 criteria provided, single submitter clinical testing The c.2885A>G (p.E962G) alteration is located in exon 30 (coding exon 30) of the SPINK5 gene. This alteration results from a A to G substitution at nucleotide position 2885, causing the glutamic acid (E) at amino acid position 962 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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