ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg)

dbSNP: rs1451813366
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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 RCV001348962 SCV001543289 uncertain significance Netherton syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 358 of the SPINK5 protein (p.Gly358Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SPINK5-related conditions. 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 RCV004671360 SCV005165057 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.1072G>A (p.G358R) alteration is located in exon 12 (coding exon 12) of the SPINK5 gene. This alteration results from a G to A substitution at nucleotide position 1072, causing the glycine (G) at amino acid position 358 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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