ClinVar Miner

Submissions for variant NM_014930.3(ZNF510):c.337A>C (p.Asn113His)

dbSNP: rs1849391853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004107120 SCV003580804 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing The c.337A>C (p.N113H) alteration is located in exon 5 (coding exon 4) of the ZNF510 gene. This alteration results from a A to C substitution at nucleotide position 337, causing the asparagine (N) at amino acid position 113 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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