ClinVar Miner

Submissions for variant NM_133459.4(CCBE1):c.274G>A (p.Val92Ile)

gnomAD frequency: 0.00001  dbSNP: rs374811948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332862 SCV001525300 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 1 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546600 SCV003560780 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.274G>A (p.V92I) alteration is located in exon 4 (coding exon 4) of the CCBE1 gene. This alteration results from a G to A substitution at nucleotide position 274, causing the valine (V) at amino acid position 92 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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