ClinVar Miner

Submissions for variant NM_001142730.3(KCTD1):c.2566G>A (p.Val856Ile)

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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 RCV002918641 SCV003256376 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004066231 SCV004892058 uncertain significance not specified 2021-10-06 criteria provided, single submitter clinical testing The c.2566G>A (p.V856I) alteration is located in exon 5 (coding exon 5) of the KCTD1 gene. This alteration results from a G to A substitution at nucleotide position 2566, causing the valine (V) at amino acid position 856 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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