ClinVar Miner

Submissions for variant NM_178554.6(KY):c.1895C>G (p.Ala632Gly)

gnomAD frequency: 0.00008  dbSNP: rs527908164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003493058 SCV004235954 uncertain significance Myofibrillar myopathy 7 2023-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV005363124 SCV006023291 uncertain significance Inborn genetic diseases 2025-01-10 criteria provided, single submitter clinical testing The c.1895C>G (p.A632G) alteration is located in exon 11 (coding exon 11) of the KY gene. This alteration results from a C to G substitution at nucleotide position 1895, causing the alanine (A) at amino acid position 632 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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