ClinVar Miner

Submissions for variant NM_003173.4(SUV39H1):c.813G>A (p.Met271Ile)

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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 RCV004871293 SCV005515611 uncertain significance not specified 2024-09-08 criteria provided, single submitter clinical testing The c.813G>A (p.M271I) alteration is located in exon 3 (coding exon 3) of the SUV39H1 gene. This alteration results from a G to A substitution at nucleotide position 813, causing the methionine (M) at amino acid position 271 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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