ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.190C>G (p.Leu64Val)

dbSNP: rs1277676251
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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 RCV003294729 SCV003976509 uncertain significance Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing The c.190C>G (p.L64V) alteration is located in exon 1 (coding exon 1) of the HOGA1 gene. This alteration results from a C to G substitution at nucleotide position 190, causing the leucine (L) at amino acid position 64 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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