ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.2821A>C (p.Asn941His)

dbSNP: rs775094744
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002803309 SCV003589773 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.2821A>C (p.N941H) alteration is located in exon 10 (coding exon 10) of the BPTF gene. This alteration results from a A to C substitution at nucleotide position 2821, causing the asparagine (N) at amino acid position 941 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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