ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.913G>A (p.Asp305Asn)

gnomAD frequency: 0.00002  dbSNP: rs368574794
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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 RCV001331593 SCV001523665 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2019-03-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546494 SCV003685424 uncertain significance Inborn genetic diseases 2022-09-07 criteria provided, single submitter clinical testing The c.913G>A (p.D305N) alteration is located in exon 4 (coding exon 4) of the EARS2 gene. This alteration results from a G to A substitution at nucleotide position 913, causing the aspartic acid (D) at amino acid position 305 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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