ClinVar Miner

Submissions for variant NM_004795.4(KL):c.497A>G (p.Asn166Ser)

gnomAD frequency: 0.00002  dbSNP: rs387907444
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002477179 SCV002781004 uncertain significance Tumoral calcinosis, hyperphosphatemic, familial, 3 2022-03-29 criteria provided, single submitter clinical testing
Invitae RCV000054738 SCV003295533 uncertain significance not provided 2022-12-24 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) performed at Invitae indicates that this missense variant is not expected to disrupt KL protein function. ClinVar contains an entry for this variant (Variation ID: 64551). This variant has not been reported in the literature in individuals affected with KL-related conditions. This variant is present in population databases (rs387907444, gnomAD 0.009%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 166 of the KL protein (p.Asn166Ser).
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054738 SCV000077428 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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