ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)

gnomAD frequency: 0.00002  dbSNP: rs370830919
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664546 SCV000788528 uncertain significance Alstrom syndrome 2017-11-13 criteria provided, single submitter clinical testing
Invitae RCV000664546 SCV000935505 uncertain significance Alstrom syndrome 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 240 of the ALMS1 protein (p.Ala240Val). This variant is present in population databases (rs370830919, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 549958). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000664546 SCV002500993 uncertain significance Alstrom syndrome 2022-02-08 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 4 of the ALMS1 gene that results in the amino acid substitution of Valine for Alanine at codon 239 was detected. The observed variant c.716C>T (p.Ala239Val) has not been reported in the 1000 genomes and has minor allele frequency of 0.004% in the gnomAD database. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
GeneDx RCV002462005 SCV002757337 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000664546 SCV002080388 uncertain significance Alstrom syndrome 2019-10-28 no assertion criteria provided clinical testing

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