ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu)

dbSNP: rs2154596200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925680 SCV002180409 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2021-08-23 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 824 of the DIAPH1 protein (p.Lys824Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.
Ambry Genetics RCV004611988 SCV005104594 uncertain significance Inborn genetic diseases 2024-05-24 criteria provided, single submitter clinical testing The c.2470A>G (p.K824E) alteration is located in exon 17 (coding exon 17) of the DIAPH1 gene. This alteration results from a A to G substitution at nucleotide position 2470, causing the lysine (K) at amino acid position 824 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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