ClinVar Miner

Submissions for variant NM_004795.4(KL):c.257G>A (p.Gly86Asp)

gnomAD frequency: 0.00001  dbSNP: rs1477759912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936627 SCV002211727 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing 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. 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 KL protein function. ClinVar contains an entry for this variant (Variation ID: 1439474). This variant has not been reported in the literature in individuals affected with KL-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 86 of the KL protein (p.Gly86Asp).
Fulgent Genetics, Fulgent Genetics RCV002492033 SCV002778872 uncertain significance Tumoral calcinosis, hyperphosphatemic, familial, 3 2021-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004935229 SCV005608900 uncertain significance not specified 2024-07-10 criteria provided, single submitter clinical testing The c.257G>A (p.G86D) alteration is located in exon 1 (coding exon 1) of the KL gene. This alteration results from a G to A substitution at nucleotide position 257, causing the glycine (G) at amino acid position 86 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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