ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu)

gnomAD frequency: 0.00001  dbSNP: rs1261408099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596852 SCV000706731 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243211 SCV003943538 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.11899C>G (p.Q3967E) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to G substitution at nucleotide position 11899, causing the glutamine (Q) at amino acid position 3967 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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