ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.2308G>A (p.Val770Ile)

gnomAD frequency: 0.00005  dbSNP: rs754651566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375237 SCV001571987 likely benign Stickler syndrome 2021-04-12 criteria provided, single submitter clinical testing PM2_Supporting, BS2_Supporting, BP4_Supporting
Invitae RCV002070248 SCV002437474 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550209 SCV003732114 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.2308G>A (p.V770I) alteration is located in exon 17 (coding exon 17) of the LOXHD1 gene. This alteration results from a G to A substitution at nucleotide position 2308, causing the valine (V) at amino acid position 770 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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