ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln)

gnomAD frequency: 0.00002  dbSNP: rs528268486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001371755 SCV001568334 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 550 of the DIAPH1 protein (p.Lys550Gln). This variant is present in population databases (rs528268486, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1062081). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV003284284 SCV004008484 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.1648A>C (p.K550Q) alteration is located in exon 16 (coding exon 16) of the DIAPH1 gene. This alteration results from a A to C substitution at nucleotide position 1648, causing the lysine (K) at amino acid position 550 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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