ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.4384A>T (p.Asn1462Tyr)

dbSNP: rs1853953374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173119 SCV001336195 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002327420 SCV002628746 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The p.N1462Y variant (also known as c.4384A>T), located in coding exon 32 of the SBF2 gene, results from an A to T substitution at nucleotide position 4384. The asparagine at codon 1462 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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