ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.3584C>T (p.Ser1195Leu)

gnomAD frequency: 0.00001  dbSNP: rs748284095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441231 SCV004170362 uncertain significance not provided 2023-04-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004364685 SCV004915054 uncertain significance Inborn genetic diseases 2023-11-13 criteria provided, single submitter clinical testing The c.3584C>T (p.S1195L) alteration is located in exon 24 (coding exon 24) of the ACE gene. This alteration results from a C to T substitution at nucleotide position 3584, causing the serine (S) at amino acid position 1195 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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