ClinVar Miner

Submissions for variant NM_001031834.1(RAB40AL):c.660C>G (p.Ser220Arg)

gnomAD frequency: 0.00028  dbSNP: rs148863690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507937 SCV000604994 likely benign not specified 2016-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000507937 SCV003996283 uncertain significance not specified 2023-04-17 criteria provided, single submitter clinical testing The c.660C>G (p.S220R) alteration is located in exon 1 (coding exon 1) of the RAB40AL gene. This alteration results from a C to G substitution at nucleotide position 660, causing the serine (S) at amino acid position 220 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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