ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1928A>G (p.Lys643Arg)

gnomAD frequency: 0.00001  dbSNP: rs779280272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227149 SCV003923454 uncertain significance not provided 2022-11-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004961238 SCV005457471 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.1928A>G (p.K643R) alteration is located in exon 21 (coding exon 19) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 1928, causing the lysine (K) at amino acid position 643 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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