ClinVar Miner

Submissions for variant NM_006901.4(MYO9A):c.359G>A (p.Ser120Asn)

gnomAD frequency: 0.00009  dbSNP: rs147186127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091355 SCV001247338 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353156 SCV004065669 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.359G>A (p.S120N) alteration is located in exon 2 (coding exon 1) of the MYO9A gene. This alteration results from a G to A substitution at nucleotide position 359, causing the serine (S) at amino acid position 120 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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