ClinVar Miner

Submissions for variant NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003090032 SCV003478436 benign not provided 2022-09-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331431 SCV004039380 uncertain significance not specified 2023-08-24 criteria provided, single submitter clinical testing Variant summary: ALPK1 c.2704A>C (p.Ser902Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251200 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2704A>C in individuals affected with Optic Nerve Edema-Splenomegaly Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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