ClinVar Miner

Submissions for variant NM_024528.4(NKAP):c.550A>G (p.Lys184Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148323 SCV003835079 uncertain significance Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 2021-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004961224 SCV005456427 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.550A>G (p.K184E) alteration is located in exon 4 (coding exon 4) of the NKAP gene. This alteration results from a A to G substitution at nucleotide position 550, causing the lysine (K) at amino acid position 184 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004750870 SCV005364766 uncertain significance NKAP-related disorder 2024-06-11 no assertion criteria provided clinical testing The NKAP c.550A>G variant is predicted to result in the amino acid substitution p.Lys184Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0057% of alleles in individuals of African descent in gnomAD v2 (as displayed in the table above). However, in gnomAD v4 (available only on GRCh38), this variant is reported in 0.003713% of alleles in a subpopulation, including 8 homozygotes. This population data is not consistent with this variant being a primary cause of disease. Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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