ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.7553A>G (p.Gln2518Arg)

dbSNP: rs2512564760
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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 RCV002813738 SCV003611502 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.7553A>G (p.Q2518R) alteration is located in exon 21 (coding exon 21) of the BPTF gene. This alteration results from a A to G substitution at nucleotide position 7553, causing the glutamine (Q) at amino acid position 2518 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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