ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys)

gnomAD frequency: 0.00045  dbSNP: rs150984603
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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 RCV001292881 SCV001481568 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2019-09-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003346429 SCV004058712 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.2253C>A (p.N751K) alteration is located in exon 19 (coding exon 17) of the RHBDF2 gene. This alteration results from a C to A substitution at nucleotide position 2253, causing the asparagine (N) at amino acid position 751 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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