ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn)

gnomAD frequency: 0.00001  dbSNP: rs754470891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521449 SCV000619735 uncertain significance not provided 2024-09-30 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868)
Fulgent Genetics, Fulgent Genetics RCV002481716 SCV002791593 uncertain significance Cerebral palsy, spastic quadriplegic, 2 2021-12-30 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709863 SCV000840198 not provided KANK1-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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