ClinVar Miner

Submissions for variant NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met)

gnomAD frequency: 0.00010  dbSNP: rs104893976
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719609 SCV005325215 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23217710, 27260575, 31835641, 16752389)
OMIM RCV000001765 SCV000021921 pathogenic Autosomal recessive nonsyndromic hearing loss 67 2006-07-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003964787 SCV004783419 uncertain significance LHFPL5-related disorder 2023-12-07 no assertion criteria provided clinical testing The LHFPL5 c.494C>T variant is predicted to result in the amino acid substitution p.Thr165Met. This variant was reported in the homozygous state in six individuals from a consanguineous family with nonsyndromic hearing loss (Kalay. 2006. PubMed ID: 16752389). This variant is reported in 0.0096% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Dr.Nikuei Genetic Center RCV000001765 SCV005044502 pathogenic Autosomal recessive nonsyndromic hearing loss 67 no assertion criteria provided clinical testing

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