ClinVar Miner

Submissions for variant NM_015275.3(WASHC4):c.641A>G (p.Lys214Arg)

gnomAD frequency: 0.00009  dbSNP: rs369855750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334841 SCV001527809 uncertain significance Intellectual disability, autosomal recessive 43 2018-02-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035784 SCV004979476 uncertain significance not specified 2022-12-06 criteria provided, single submitter clinical testing The c.641A>G (p.K214R) alteration is located in exon 9 (coding exon 9) of the KIAA1033 gene. This alteration results from a A to G substitution at nucleotide position 641, causing the lysine (K) at amino acid position 214 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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