ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)

gnomAD frequency: 0.00003  dbSNP: rs766517046
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308313 SCV001497756 uncertain significance not provided 2020-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1256 of the IKBKAP protein (p.Gln1256Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs766517046, ExAC 0.001%). This variant has not been reported in the literature in individuals with a IKBKAP-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, this variant has uncertain impact on IKBKAP function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002483349 SCV002784391 uncertain significance Medulloblastoma; Familial dysautonomia 2022-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV005328296 SCV005991760 uncertain significance not specified 2025-01-27 criteria provided, single submitter clinical testing The c.3767A>G (p.Q1256R) alteration is located in exon 35 (coding exon 34) of the IKBKAP gene. This alteration results from a A to G substitution at nucleotide position 3767, causing the glutamine (Q) at amino acid position 1256 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000553861 SCV001452814 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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