ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.3010A>G (p.Thr1004Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145057 SCV003831056 uncertain significance Intellectual disability, X-linked, syndromic, Houge type 2022-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004614408 SCV005109369 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The c.3010A>G (p.T1004A) alteration is located in exon 22 (coding exon 22) of the CNKSR2 gene. This alteration results from a A to G substitution at nucleotide position 3010, causing the threonine (T) at amino acid position 1004 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003946451 SCV004762826 uncertain significance CNKSR2-related disorder 2023-12-13 no assertion criteria provided clinical testing The CNKSR2 c.3010A>G variant is predicted to result in the amino acid substitution p.Thr1004Ala. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This alteration is in the terminal exon, and no other variants nearby have been reported as causative. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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